Skip to content

Publications

Authors who are lab members or alumni are shown in bold font.

Highlights

Author Year Title Journal PMID
Gargano MA 2024 The Human Phenotype Ontology in 2024 phenotypes around the world Nucleic Acids Res PMID:37953324
Carmody LC 2023 The Medical Action Ontology A tool for annotating and analyzing treatments and clinical management of human disease Med PMID:37963467
Reese JT 2023 Generalisable long COVID subtypes findings from the NIH N3C and RECOVER programmes EBioMedicine PMID:36563487
Coleman B 2022 Risk of new-onset psychiatric sequelae of COVID-19 in the early and late post-acute phase World Psychiatry PMID:35524622
Jacobsen JOB 2022 The GA4GH Phenopacket schema A computable representation of clinical data for precision medicine Nat Biotechnol PMID:35705716
Danis D 2022 SvAnna efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing Genome Med PMID:35484572
Danis D 2021 Interpretable prioritization of splice variants in diagnostic next-generation sequencing Am J Hum Genet PMID:34289339
Robinson PN 2020 Interpretable Clinical Genomics with a Likelihood Ratio Paradigm Am J Hum Genet PMID:32755546
Karlebach G 2020 HBA-DEALS accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis Genome Biol PMID:32660516
Steinhaus R 2020 Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers Nucleic Acids Res PMID:32338759
Haendel MA 2018 Classification, Ontology, and Precision Medicine N Engl J Med PMID:30304648
Mungall CJ 2017 The Monarch Initiative an integrative data and analytic platform connecting phenotypes to genotypes across species Nucleic Acids Res PMID:27899636
Smedley D 2016 A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease Am J Hum Genet PMID:27569544
Jäger M 2016 Alternate-locus aware variant calling in whole genome sequencing Genome Med PMID:27964746
Knaus A 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome Hum Mutat PMID:27120253
Brookes AJ 2015 Human genotype-phenotype databases aims, challenges and opportunities Nat Rev Genet PMID:26553330
Hansen P 2015 Saturation analysis of ChIP-seq data for reproducible identification of binding peaks Genome Res PMID:26163319
Smedley D 2015 Next-Generation Diagnostics and Disease Gene Discovery with the Exomiser Nat Protoc PMID:26562621
Groza T 2015 The Human Phenotype Ontology Semantic unification of common and rare disease Am J Human Genet PMID:26119816
Ibn-Salem J 2014 Deletions of chromosomal regulatory boundaries are associated with congenital disease Genome Biology PMID:
Zemojtel T 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Science Transl Med PMID:25186178
Robinson PN 2014 Improved exome prioritization of disease genes through cross species phenotype comparison Genome Res PMID:24162188
Guo G 2013 Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice Hum Mol Genet PMID:23100322
Krawitz PM 2010 Identity-by-Descent Filtering of Exome Sequence Data identifies PIGV mutations in Hyperphosphatasia Mental Retardation syndrome (HPMR) Nat Genet PMID:20802478
Bauer S 2010 GOing Bayesian model-based gene set analysis of genome-scale data Nucleic Acids Res PMID:n/a
Köhler S 2009 Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies Am J Hum Genet PMID:19800049
Robinson PN 2008 The Human Phenotype Ontology A Tool for Annotating and Analyzing Human Hereditary Disease Am J Hum Genet PMID:18950739
Köhler S 2008 Walking the interactome for prioritization of candidate disease genes Am J Hum Genet PMID:18371930
Guo G 2006 Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment Circulation PMID:17030689

2024 Publications

  1. Karlebach G, Steinhaus R, Danis D, Devoucoux M, Anczuków O, Sheynkman G, Seelow D, Robinson PN
    Alternative splicing is coupled to gene expression in a subset of variably expressed genes.
    NPJ Genom Med, 2024; 9(1):54 PMID:39496626
  2. Beckwith MA, Danis D, Bridges Y, Jacobsen JOB, Smedley D, Robinson PN
    Leveraging Clinical Intuition to Improve Accuracy of Phenotype-Driven Prioritization
    Genet Med, 2024; 101292. doi 10.1016/j.gim.2024.101292.:Epub ahead of print. PMID:39396132
  3. Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Chandrabose Sundaramurthi J, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN
    A corpus of GA4GH phenopackets case-level phenotyping for genomic diagnostics and discovery
    HGG Adv., 2024; 100371. doi 10.1016/j.xhgg.2024.100371.:Epub ahead of print PMID:39394689
  4. van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B
    Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
    Orphanet J Rare Dis, 2024; 19(1):357 PMID:39334316
  5. Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, Hansen P, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, Köhler S, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, Robinson PN, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D
    The Unified Phenotype Ontology (uPheno) A framework for cross-species integrative phenomics.
    bioRxiv [Preprint], 2024; 2024.09.18.613276.:. PMID:
  6. Cavalleri E, Cabri A, Soto-Gomez M, Bonfitto S, Perlasca P, Gliozzo J, Callahan TJ, Reese J, Robinson PN, Casiraghi E, Valentini G, Mesiti M
    An ontology-based knowledge graph for representing interactions involving RNA molecules.
    Sci Data, 2024; 11(1):906 PMID:39174566
  7. White BS, Woo XY, Koc S, Sheridan T, Neuhauser SB, Wang S, Evrard YA, Chen L, Foroughi Pour A, Landua JD, Mashl RJ, Davies SR, Fang B, Raso MG, Evans KW, Bailey MH, Chen Y, Xiao M, Rubinstein JC, Sanderson BJ, Lloyd MW, Domanskyi S, Dobrolecki LE, Fujita M, Fujimoto J, Xiao G, Fields RC, Mudd JL, Xu X, Hollingshead MG, Jiwani S, Acevedo S; PDXNet Consortium; Davis-Dusenbery BN, Robinson PN, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Carvajal-Carmona LG, Welm AL, Welm BE, Govindan R, Li S, Davies MA, Roth JA, Meric-Bernstam F, Xie Y, Herlyn M, Ding L, Lewis MT, Bult CJ, Dean DA 2nd, Chuang JH
    A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis
    Cancer Res, 2024; 84(13):2060-2072 PMID:39082680
  8. Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, Robinson PN, Rodwell C, Schaefer F, Weber S, Macchia F
    Operational description of rare diseases a reference to improve the recognition and visibility of rare diseases.
    Orphanet J Rare Dis, 2024; 19(1):334 PMID:39261914
  9. Caufield JH, Hegde H, Emonet V, Harris NL, Joachimiak MP, Matentzoglu N, Kim H, Moxon S, Reese JT, Haendel MA, Robinson PN, Mungall CJ
    Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES) a method for populating knowledge bases using zero-shot learning
    Bioinformatics, 2024; 40(3):btae104 PMID:38383067
  10. Cappelletti L, Rekerle L, Fontana T, Hansen P, Casiraghi E, Ravanmehr V, Mungall CJ, Yang JJ, Spranger L, Karlebach G, Caufield JH, Carmody L, Coleman B, Oprea TI, Reese J, Valentini G, Robinson PN
    Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning
    Bioinform Adv, 2024; 4(1):vbae036 PMID:38577542
  11. Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, Robinson PN, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE
    An open source knowledge graph ecosystem for the life sciences
    Sci Data, 2024; 11(1):363 PMID:38605048
  12. Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D
    Lethal phenotypes in Mendelian disorders
    Genet Med, 2024; 26(7):101141 PMID:38629401
  13. Chan LE, Casiraghi E, Reese J, Harmon QE, Schaper K, Hegde H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, Robinson PN, Haendel MA
    Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests
    Int J Med Inform, 2024; 187:105461 PMID:38643701
  14. Morgan AT, Coleman B, Vogel AP, McNeill A, Robinson PN
    Speech and language classification in the human phenotype ontology
    Eur J Hum Genet, 2024; doi 10.1038/s41431-024-01635-6:Epub ahead of print PMID:38951652
  15. Groza T, Gration D, Baynam G, Robinson PN
    FastHPOCR Pragmatic, fast and accurate concept recognition using the Human Phenotype Ontology
    Bioinformatics, 2024; 40(7):btae406 PMID:38913850
  16. Coleman B, Casiraghi E, Callahan TJ, Blau H, Chan LE, Laraway B, Clark KB, Re'em Y, Gersing KR, Wilkins KJ, Harris NL, Valentini G, Haendel MA, Reese JT, Robinson PN
    Association of post-COVID phenotypic manifestations with new-onset psychiatric disease
    Transl Psychiatry, 2024; 14(1):246 PMID:38851761
  17. Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN, Smedley D
    Improving prenatal diagnosis through standards and aggregation
    Prenat Diagn, 2024; 44(4):454-464 PMID:38242839
  18. Groza T, Caufield H, Gration D, Baynam G, Haendel MA, Robinson PN, Mungall CJ, Reese JT
    An evaluation of GPT models for phenotype concept recognition
    BMC Med Inform Decis Mak, 2024; 24:30 PMID:38297371
  19. Putman TE, Schaper K, Matentzoglu N, Rubinetti VP, Alquaddoomi FS, Cox C, Caufield JH, Elsarboukh G, Gehrke S, Hegde H, Reese JT, Braun I, Bruskiewich RM, Cappelletti L, Carbon S, Caron AR, Chan LE, Chute CG, Cortes KG, De Souza V, Fontana T, Harris NL, Hartley EL, Hurwitz E, Jacobsen JOB, Krishnamurthy M, Laraway BJ, McLaughlin JA, McMurry JA, Moxon SAT, Mullen KR, O'Neil ST, Shefchek KA, Stefancsik R, Toro S, Vasilevsky NA, Walls RL, Whetzel PL, Osumi-Sutherland D, Smedley D, Robinson PN, Mungall CJ, Haendel MA, Munoz-Torres MC
    The Monarch Initiative in 2024 an analytic platform integrating phenotypes, genes and diseases across species
    Nucleic Acids Res, 2024; 52(D1):D938-D949 PMID:38000386
  20. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS
    Towards robust clinical genome interpretation developing a consistent terminology to characterize Mendelian disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
    Genet Med, 2024; 26(2):101029 PMID:37982373
  21. Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN
    The Human Phenotype Ontology in 2024 phenotypes around the world
    Nucleic Acids Res, 2024; 52(D1):D1333-D1346 PMID:37953324
  22. Karlebach G, Robinson PN
    Computing Minimal Boolean Models of Gene Regulatory Networks
    J Comput Biol, 2024; 31(2):117-127 PMID:37889991

2023 Publications

  1. Cappelletti L, Fontana T, Casiraghi E, Ravanmehr V, Callahan TJ, Cano C, Joachimiak MP, Mungall CJ, Robinson PN, Reese J, Valentini G
    GRAPE for fast and scalable graph processing and random-walk-based embedding
    Nat Comput Sci, 2023; 3(6):552-568 PMID:38177435
  2. Groza T, Wu H, Dinger ME, Danis D, Hilton C, Bagley A, Davids JR, Luo L, Lu Z, , Robinson PN
    Term-BLAST-Like Alignment Tool for Concept Recognition in Noisy Clinical Texts
    Bioinformatics, 2023; 39:btad716 PMID:38001031
  3. Valentini G, Malchiodi D, Gliozzo J, Mesiti M, Soto-Gomez M, Cabri A, Reese J, Casiraghi E, , Robinson PN
    The promises of large language models for protein design and modeling
    Front Bioinform, 2023; 3:1304099 PMID:38076030
  4. Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, , Robinson PN
    The Medical Action Ontology A tool for annotating and analyzing treatments and clinical management of human disease
    Med, 2023; 4(12):913-927 PMID:37963467
  5. Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A
    Phenotypic similarity-based approach for variant prioritization for unsolved rare disease a preliminary methodological report
    Eur J Hum Genet, 2023; 10.1038/s41431-023-01486-7:Epub ahead of print PMID:37926714
  6. Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN
    De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
    Cold Spring Harb Mol Case Stud, 2023; 8:mcs.a006293 PMID:37684057
  7. Stefanucci L, Collins JH, Sims MC, Barrio-Hernandez I, Sun L, Burren O, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson JD, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss KJ, Downes K, Gleadall NS, Megy K, Bruford E, Vuckovic D
    The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants
    Blood, 2023; doi 10.1182/blood.2023020118:Epub ahead of print PMID:37647632
  8. Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T
    Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
    Am J Med Genet C Semin Med Genet, 2023; n/a:Epub ahead of print PMID:37654076
  9. Antony B, Blau H, Casiraghi E, Loomba JJ, Callahan TJ, Laraway BJ, Wilkins KJ, Antonescu CC, Valentini G, Williams AE, Robinson PN, Reese JT, Murali TM; N3C consortium
    Predictive models of long COVID
    EBioMedicine, 2023; 96:104777 PMID:37672869
  10. Callahan TJ, Stefanski AL, Wyrwa JM, Zeng C, Ostropolets A, Banda JM, Baumgartner WA Jr, Boyce RD, Casiraghi E, Coleman BD, Collins JH, Deakyne Davies SJ, Feinstein JA, Lin AY, Martin B, Matentzoglu NA, Meeker D, Reese J, Sinclair J, Taneja SB, Trinkley KE, Vasilevsky NA, Williams AE, Zhang XA, Denny JC, Ryan PB, Hripcsak G, Bennett TD, Haendel MA, Robinson PN, Hunter LE, Kahn MG
    Ontologizing health systems data at scale making translational discovery a reality
    NPJ Digit Med, 2023; 6:89 PMID:37208468
  11. Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano M, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN
    De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
    Cold Spring Harb Mol Case Stud, 2023; n/a:Epub ahead of print PMID:37684057
  12. Caufield JH, Putman T, Schaper K, Unni DR, Hegde H, Callahan TJ, Cappelletti L, Moxon SAT, Ravanmehr V, Carbon S, Chan LE, Cortes K, Shefchek KA, Elsarboukh G, Balhoff J, Fontana T, Matentzoglu N, Bruskiewich RM, Thessen AE, Harris NL, Munoz-Torres MC, Haendel MA, Robinson PN, Joachimiak MP, Mungall CJ, Reese JT
    KG-Hub - Building and Exchanging Biological Knowledge Graphs
    Bioinformatics, 2023; 39:btad418 PMID:37389415
  13. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D
    The Ontology of Biological Attributes (OBA)-computational traits for the life sciences
    Mamm Genome, 2023; Epub ahead of print:doi 10.1007/s00335-023-09992-1 PMID:37076585
  14. Cappelletti L, Taverni, S, Fontana T, Joachimiak MP, Reese J, Robinson N, Casiraghi E, Valentini G
    Degree-Normalization Improves Random-Walk-Based Embedding Accuracy in PPI Graphs
    in Bioinformatics and Biomedical Engineering, editors Rojas I, Valenzuela O, Rojas Ruiz F, Herrera LJ, Ortuño F, 2023; n/a:372-383 PMID:
  15. Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D
    The Ontology of Biological Attributes (OBA)-computational traits for the life sciences
    Mamm Genome, 2023; 34(3):364-378 PMID:37076585
  16. Karlebach G, Carmody L, Sundaramurthi JC, Casiraghi E, Hansen P, Reese J, Mungall CJ, Valentini G, Robinson PN
    An expectation-maximization framework for comprehensive prediction of isoform-specific functions
    Bioinformatics, 2023; 39(4):btad132 PMID:36929917
  17. Danis D, Jacobsen JOB, Wagner AH, Groza T, Beckwith MA, Rekerle L, Carmody LC, Reese J, Hegde H, Ladewig MS, Seitz B, Munoz-Torres M, Harris NL, Rambla J, Baudis M, Mungall CJ, Haendel MA, Robinson PN
    Phenopacket-tools Building and validating GA4GH Phenopackets
    PLoS One, 2023; 18(5):e0285433 PMID:37196000
  18. Casiraghi E, Wong R, Hall M, Coleman B, Notaro M, Evans MD, Tronieri JS, Blau H, Laraway B, Callahan TJ, Chan LE, Bramante CT, Buse JB, Moffitt RA, Stürmer T, Johnson SG, Raymond Shao Y, Reese J, Robinson PN, Paccanaro A, Valentini G, Huling JD, Wilkins KJ; N3C Consortium
    A method for comparing multiple imputation techniques A case study on the U.S. national COVID cohort collaborative
    J Biomed Inform, 2023; 139:104295 PMID:36716983
  19. Knoflach K, Rapp CK, Schwerk N, Carlens J, Wetzke M, Emiralioğlu N, Kiper N, Ring AM, Buchvald F, Manali E, Papiris S, Reu-Hofer S, Kappler M, Schieber A, Seidl E, Gothe F, Robinson PN, Griese M; ChILD EU Collaborators
    Diffuse alveolar hemorrhage in children with interstitial lung disease Determine etiologies!
    Pediatr Pulmonol, 2023; 58(4):1106-1121 PMID:36588100
  20. Reese JT, Blau H, Casiraghi E, Bergquist T, Loomba JJ, Callahan TJ, Laraway B, Antonescu C, Coleman B, Gargano M, Wilkins KJ, Cappelletti L, Fontana T, Ammar N, Antony B, Murali TM, Caufield JH, Karlebach G, McMurry JA, Williams A, Moffitt R, Banerjee J, Solomonides AE, Davis H, Kostka K, Valentini G, Sahner D, Chute CG, Madlock-Brown C, Haendel MA, Robinson PN; N3C Consortium; RECOVER Consortium
    Generalisable long COVID subtypes findings from the NIH N3C and RECOVER programmes
    EBioMedicine, 2023; 87:104413 PMID:36563487

2022 Publications

  1. Chan LE, Casiraghi E, Laraway B, Coleman B, Blau H, Zaman A, Harris NL, Wilkins K, Antony B, Gargano M, Valentini G, Sahner D, Haendel M, Robinson PN, Bramante C, Reese J; N3C consortium
    Metformin is associated with reduced COVID-19 severity in patients with prediabetes
    Diabetes Res Clin Pract, 2022; 194:110157 PMID:36400170
  2. Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley A, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I
    Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
    Am J Hum Genet, 2022; 109:1472-1483 PMID:
  3. Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Gouveia Silva R, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN
    Prenatal phenotyping a community effort to enhance the Human Phenotype Ontology
    Am J Med Genet C, 2022; 190(2):231-242 PMID:
  4. Ladewig MS, Jacobsen JOB, Wagner AH, Danis D, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, Robinson PN
    GA4GH Phenopackets A practical introduction
    Adv Genet (Hoboken), 2022; 4:2200016 PMID:36910590
  5. Robinson PN, Graessner H
    Datenstandards für Seltene Erkrankungen
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2022; 65(11):1126-1132 PMID:
  6. Petrini A, Notaro M, Gliozzo J, Castrignan{`o} T, Robinson PN, Casiraghi E, Valentini G
    ParSMURF-NG A Machine Learning High Performance Computing System for the Analysis of Imbalanced Big Omics Data
    Artificial Intelligence Applications and Innovations. AIAI 2022 IFIP WG 12.5 International Workshops, 2022; n/a:424-435 PMID:
  7. Steinhaus R, Robinson PN, Seelow D
    FABIAN-variant predicting the effects of DNA variants on transcription factor binding
    Nucleic Acids Res, 2022; 50(W1):W322-W329 PMID:35639768
  8. Jacobsen JOB, Kelly C, Cipriani V, Robinson PN, Smedley D
    Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases
    Brief Bioinform, 2022; 38(12):1271-1283 PMID:35595299
  9. Steinhaus R, Proft S, Seelow E, Schalau T, Robinson PN, Seelow D
    Deep phenotyping symptom annotation made simple with SAMS
    Nucleic Acids Res, 2022; 50(W1):W677-W681 PMID:35524573
  10. Koc S, Lloyd MW, Grover JW, Xiao N, Seepo S, Subramanian SL, Ray M, Frech C, DiGiovanna J, Webster P, Neuhauser S, Srivastava A, Woo XY, Sanderson BJ, White B, Lott P, Dobrolecki LE, Dowst H; PDXNet Consortium, Evrard YA, Wallace TA, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Chen MS, Carvajal-Carmona L, Welm AL, Welm BE, Lewis MT, Govindan R, Ding L, Li S, Herlyn M, Davies MA, Roth J, Meric-Bernstam F, Robinson PN, Bult CJ, Davis-Dusenbery B, Dean DA 2nd, Chuang JH
    PDXNet portal patient-derived Xenograft model, data, workflow and tool discovery
    NAR Cancer, 2022; 4:zcac014 PMID:35475145
  11. Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, Robinson PN, Boerkoel CF
    The Clinical Variant Analysis Tool Analyzing the evidence supporting reported genomic variation in clinical practice
    Genet Med, 2022; 24(7):1512-1522 PMID:35442193
  12. Coleman B, Casiraghi E, Blau H, Chan L, Haendel M, Laraway B, Callahan TJ, Deer RR, Wilkins K, Reese J, Robinson PN,
    Risk of new-onset psychiatric sequelae of COVID-19 in the early and late post-acute phase
    World Psychiatry, 2022; 21:319-320 PMID:35524622
  13. Yan S, Luo L, Lai PT, Veltri D, Oler AJ, Xirasagar S, Ghosh R, Similuk M, Robinson PN, Lu Z
    PhenoRerank A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology
    J Biomed Inform, 2022; 129:104059 PMID:35351638
  14. Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium, Haendel MA, Robinson PN
    The GA4GH Phenopacket schema A computable representation of clinical data for precision medicine
    Nat Biotechnol, 2022; 40(6):817-820 PMID:35705716
  15. Reese JT, Coleman B, Chan L, Blau H, Callahan TJ, Cappelletti L, Fontana T, Bradwell KR, Harris NL, Casiraghi E, Valentini G, Karlebach G, Deer R, McMurry JA, Haendel MA, Chute CG, Pfaff E, Moffitt R, Spratt H, Singh J, Mungall CJ, Williams AE, Robinson PN,
    NSAID use and clinical outcomes in COVID-19 patients A 38-center retrospective cohort study
    Virol J, 2022; 19:84 PMID:35570298
  16. Danis D, Jacobsen JOB, Balachandran P, Zhu Q, Yilmaz F, Reese J, Haimel M, Lyon GJ, Helbig I, Mungall CJ, Beck C, Lee C, Smedley D, Robinson PN,
    SvAnna efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
    Genome Med, 2022; 14:44 PMID:35484572
  17. Laurie S, Piscia D, Matalonga L, Corvo A, Garcia C, Fernandez-Callejo M, Hernandez C, Luengo C, Ntalis AP, Protassio J, Martinez I, Pico D, Thompson R, Tonda R, Bayes M, Bullich G, Camps J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske O, Cañada A, Fernandez JM, Hansson M, Horvath R, Jacobsen J, Kaliyaperumal R, Lair S, Licata L, Lopes P, López-Martin E, Mascalzoni D, Monaco L, Jurado LP, Posada M, Rambla J, Rath A, Riess O, Robinson P, Smedley D, Spalding DJ, 't Hoen PB, Töpf A, Zaharieva I, Graessner H, Gut I, Lochmüller H, Beltran S
    The RD-Connect Genome-Phenome Analysis Platform Accelerating diagnosis, research, and gene discovery for rare diseases
    Hum Mutat, 2022; 43(6):717-733 PMID:35178824
  18. Karlebach G, Aronow B, Baylin SB, Butler D, Foox J, Levy S, Meydan C, Mozsary C, Saravia-Butler AM, Taylor DM, Wurtele E, Mason CE, Beheshti A, Robinson PN
    Betacoronavirus-specific alternate splicing
    Genomics, 2022; 114:110270 PMID:35074468

2021 Publications

  1. Chan LE, Thessen AE, Duncan WD, Matentzoglu N, Schmitt C, Grondin CJ, Vasilevsky N, McMurry JA, Robinson PN, Mungall CJ, Haendel MA
    The Environmental Conditions, Treatments, and Exposures Ontology (ECTO) connecting toxicology and exposure to human health and beyond
    J Biomed Semantics, 2021; 14:3 PMID:36823605
  2. Ajami N, Kerachian MA, Toosi MB, Ashrafzadeh F, Hosseini S, Robinson PN, Abbaszadegan MR
    Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay Phenotypic matching of involved genes
    J Cell Mol Med, 2021; 27:496-505 PMID:36691971
  3. Scarabelli A, Zilocchi M, Casiraghi E, Fasani P, Plensich GG, Esposito AA, Stellato E, Petrini A, Reese J, Robinson P, Valentini G, Carrafiello G
    Abdominal Computed Tomography Imaging Findings in Hospitalized COVID-19 Patients A Year-Long Experience and Associations Revealed by Explainable Artificial Intelligence
    J Imaging, 2021; 7(12):258 PMID:34940725
  4. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith OL, Hunt SE, Kreda D, Lee JM, Li S, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, Robinson PN, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm HL, Yates AD, Freimuth RR, Hart RK
    The GA4GH Variation Representation Specification A computational framework for variation representation and federated identification
    Cell Genom, 2021; 1(2):100027 PMID:35311178
  5. Casiraghi E, Malchiodi D, Trucco G, Frasca M, Cappelletti L, Fontana T, Esposito AA, Avola E, Jachetti A, Reese J, Rizzi A, Robinson PN, Valentini G
    Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments
    IEEE Access, 2021; 8:196299-196325 PMID:34812365
  6. Deer RR, Rock MA, Vasilevsky N, Carmody L, Rando H, Anzalone AJ, Basson MD, Bennett TD, Bergquist T, Boudreau EA, Bramante CT, Byrd JB, Callahan TJ, Chan LE, Chu H, Chute CG, Coleman BD, Davis HE, Gagnier J, Greene CS, Hillegass WB, Kavuluru R, Kimble WD, Koraishy FM, Köhler S, Liang C, Liu F, Liu H, Madhira V, Madlock-Brown CR, Matentzoglu N, Mazzotti DR, McMurry JA, McNair DS, Moffitt RA, Monteith TS, Parker AM, Perry MA, Pfaff E, Reese JT, Saltz J, Schuff RA, Solomonides AE, Solway J, Spratt H, Stein GS, Sule AA, Topaloglu U, Vavougios GD, Wang L, Haendel MA, Robinson PN
    Characterizing Long COVID Deep Phenotype of a Complex Condition
    EBioMedicine, 2021; 74:103722 PMID:34839263
  7. Ravanmehr V, Blau H, Cappelletti L, Fontana T, Carmody L, Coleman B, George J, Reese J, Joachimiak M, Bocci G, Hansen P, Bult C, Rueter J, Casiraghi E, Valentini G, Mungall C, Oprea TI, Robinson PN
    Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer
    NAR Genom Bioinform, 2021; 3:lqab113 PMID:34888523
  8. Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, Li S, Lin MF, Linden M, Liu X, Udara Liyanage I, Lopez J, Lucassen AM, Lukowski M, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnár-Gábor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyrönen TH, O'Connor BD, Oesterle S, Ogishima S, Wang VO, Paglione LAD, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, Robinson PN, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu M, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, Törnroos J, Torrents D, Upchurch S, Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, Birney E
    GA4GH International policies and standards for data sharing across genomic research and healthcare
    Cell Genom, 2021; 1:100029 PMID:35072136
  9. 100, 000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M
    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
    N Engl J Med, 2021; 385(20):1868-1880 PMID:34758253
  10. Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA
    Response to Biesecker et al.
    Am J Hum Genet, 2021; 108(9):1807-1808 PMID:34478655
  11. Danis D, Jacobsen JOB, Carmody LC, Gargano MA, McMurry JA, Hegde A, Haendel MA, Valentini G, Smedley D, Robinson PN
    Interpretable prioritization of splice variants in diagnostic next-generation sequencing
    Am J Hum Genet, 2021; 108:1564-1577 PMID:34289339
  12. Notaro M, Frasca M, Petrini A, Gliozzo J, Casiraghi E, Robinson PN, Valentini G
    HEMDAG a family of modular and scalable hierarchical ensemble methods to improve Gene Ontology term prediction
    Bioinformatics, 2021; 37:4526-4533 PMID:34240108
  13. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, Hansen P, Luz U, Alvarez G, Auclair G, Hecht J, Robinson PN, Hagemeier C, Weber M
    E2F6 initiates stable epigenetic silencing of germline genes during embryonic development
    Nat Commun, 2021; 12:3582 PMID:34117224
  14. Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K
    Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
    J Allergy Clin Immunol, 2021; Online ahead of print.:S0091-6749(21)00732-6 PMID:33991581
  15. Dahlet T, Truss M, Frede U, Al Adhami H, Bardet AF, Dumas M, Vallet J, Chicher J, Hammann P, Kottnik S, Hansen P, Luz U, Alvarez G, Auclair G, Hecht J, Robinson PN, Hagemeier C, Weber M
    E2F6 initiates stable epigenetic silencing of germline genes during embryonic development
    Nat Commun, 2021; 12:3582 PMID:34117224
  16. Lewis-Smith D, Galer PD, Balagura G, Kearney H, Ganesan S, Cosico M, O'Brien M, Vaidiswaran P, Krause R, Ellis CA, Thomas RH, Robinson PN, Helbig I
    Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
    Epilepsia, 2021; 62:1293-1305 PMID:33949685
  17. Kulchak Rahm A, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, Robinson PN, Woltz MA, Williams MS, Segal MM,
    User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis
    BMJ Health Care Inform, 2021; 28:e100331 PMID:33962988
  18. Luo L, Yan S, Lai PT, Veltri D, Oler A, Xirasagar S, Ghosh R, Similuk M, , Robinson PN, Lu Z
    PhenoTagger A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology
    Bioinformatics, 2021; Jan 20:btab019 PMID:33471061
  19. Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM
    A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
    Proc Natl Acad Sci U S A, 2021; 118:e2014481118 PMID:33402532
  20. Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN Robinson PN
    The Human Phenotype Ontology in 2021
    Nucleic Acids Res, 2021; 49(D1):D1207-D1217 PMID:33264411

2020 Publications

  1. Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA
    The case for open science rare diseases
    JAMIA Open, 2020; 3(3):472-486 PMID:33426479
  2. Reese JT, Unni D, Callahan TJ, Cappelletti L, Ravanmehr V, Carbon S, Shefchek KA, Good BM, Balhoff JP, Fontana T, Blau H, Matentzoglu N, Harris NL, Munoz- Torres MC, Haendel MA, Robinson PN, Joachimiak MP, Mungall CJ
    KG-COVID-19 A Framework to Produce Customized Knowledge Graphs for COVID-19 Response
    Patterns (N Y), 2020; 2(1):100155 PMID:33196056
  3. Ong E, Wang LL, Schaub J, O'Toole JF, Steck B, Rosenberg AZ, Dowd F, Hansen J, Barisoni L, Jain S, de Boer IH, Valerius MT, Waikar SS, Park C, Crawford DC, Alexandrov T, Anderton CR, Stoeckert C, Weng C, Diehl AD, Mungall CJ, Haendel M, Robinson PN, Himmelfarb J, Iyengar R, Kretzler M, Mooney S, He Y, Kidney Precision Medicine Project
    Modelling kidney disease using ontology insights from the Kidney Precision Medicine Project
    Nat Rev Nephrol, 2020; 16:686-696 PMID:32939051
  4. Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Rheinard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G
    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets building a Treatabolome
    Orphanet J Rare Dis, 2020; 15:206 PMID:32787960
  5. Robinson PN, Haendel MA
    Ontologies, Knowledge Representation, and Machine Learning for Translational Research Recent Contributions
    Yearb Med Inform, 2020; 29:159-162 PMID:32823310
  6. Robinson PN, Ravanmehr V, Jacobsen JOB, Danis D, Zhang XA, Carmody LC, Gargano MA, Thaxton CL; UNC Biocuration Core, Karlebach G, Reese J, Holtgrewe M, Köhler S, McMurry JA, Haendel MA, Smedley D
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
    Am J Hum Genet, 2020; 107:403-417 PMID:32755546
  7. Karlebach G, Hansen P, Veiga DF, Steinhaus R, Danis D, Li S, Anczukow O, , Robinson PN
    HBA-DEALS accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis
    Genome Biol, 2020; 32660516:171 PMID:32660516
  8. Petrini A, Mesiti M, Schubach M, Frasca M, Danis D, Re M, Grossi G, Cappelletti L, Castrignan{`{o}} T, , Robinson PN, Valentini G
    parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants
    Gigascience, 2020; 9:giaa052 PMID:32444882
  9. Gasteiger LM, , Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID)
    Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms
    J Allergy Clin Immunol Pract, 2020; n/a: PMID:32389282
  10. Chang WH, Mashouri P, Lozano AX, Johnstone B, Husic M, Olry A, Maiella S, Balci TB, Sawyer SL, Robinson PN, Rath A, Brudno M
    Phenotate crowdsourcing phenotype annotations as exercises in undergraduate classes
    Genet Med, 2020; 22:1391-1400 PMID:32366968
  11. Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization Benchmarking Exomiser on Real Patient Whole-Exome Data
    Genes (Basel), 2020; 11:460 PMID:32340307
  12. Steinhaus R, Gonzalez T, Seelow D, Robinson PN
    Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers
    Nucleic Acids Res, 2020; 48:5306-5317 PMID:32338759
  13. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxon C, Bocci G, Joachimiak MP, Köhler S, , Robinson PN, Mungall C, Oprea TI
    How many rare diseases are there?
    Nat Rev Drug Discov, 2020; 19:77-78 PMID:32020066
  14. Carmody LC, Blau H, Danis D, Zhang XA, Gourdine JP, Vasilevsky N, Krawitz P, Thompson MD, Robinson PN
    Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.
    Orphanet J Rare Dis, 2020; 15:40 PMID:32019583
  15. Shefchek KA, Harris NL, Gargano M, Matentzoglu N, Unni D, Brush M, Keith D, Conlin T, Vasilevsky N, Zhang XA, Balhoff JP, Babb L, Bello SM, Blau H, Bradford Y, Carbon S, Carmody L, Chan LE, Cipriani V, Cuzick A, Rocca MD, Dunn N, Essaid S, Fey P, Grove C, Gourdine JP, Hamosh A, Harris M, Helbig I, Hoatlin M, Joachimiak M, Jupp S, Lett KB, Lewis SE, McNamara C, Pendlington ZM, Pilgrim C, Putman T, Ravanmehr V, Reese J, Riggs E, Robb S, Roncaglia P, Seager J, Segerdell E, Similuk M, Storm AL, Thaxon C, Thessen A, Jacobsen JOB, McMurry JA, Groza T, Köhler S, Smedley D, Robinson PN, Mungall CJ, Haendel MA, Munoz-Torres MC, Osumi-Sutherland D
    The Monarch Initiative in 2019 an integrative data and analytic platform connecting phenotypes to genotypes across species
    Nucleic Acids Res, 2020; 48(D1):D704-D715 PMID:31701156

2019 Publications

  1. Altinbas L, Bormann N, Lehmann D, Jeuthe S, Wulsten D, Kornak U, Robinson PN, Wildemann B, Kararigas G
    Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences
    Int J Mol Sci, 2019; 20:pii E6059 PMID:31805661
  2. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahl{\"{e}}n T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A
    Estimating heritability and genetic correlations from large health datasets in the absence of genetic data
    Nat Commun, 2019; 10:5508 PMID:31796735
  3. Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, Köhler S, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, Robinson PN, Haendel MA
    Representing glycophenotypes semantic unification of glycobiology resources for disease discovery
    Database (Oxford), 2019; 2019:pii baz114 PMID:31735951
  4. Köhler S, Øien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, Danis D, Mungall CJ, Smedley D, Haendel M, Robinson PN
    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
    Curr Protoc Hum Genet, 2019; 103:e92 PMID:31479590
  5. Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerov\'{a} V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM
    Minerva Consortium. Enabling Global Clinical Collaborations on Identifiable Patient Data The Minerva Initiative
    Front Genet, 2019; 10:611 PMID:31417602
  6. Hansen P, Gargano M, Hecht J, Ibn-Salem J, Karlebach G, Roehr JT, Robinson PN
    Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data
    Genes (Basel), 2019; 10:pii E548 PMID:31323892
  7. Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wisniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM
    PEDIA prioritization of exome data by image analysis
    Genet Med, 2019; 21:2807-2814 PMID:31164752
  8. Zhang XA, Yates A, Vasilevsky N, Gourdine JP, Callahan TJ, Carmody LC, Danis D, Joachimiak MP, Ravanmehr V, Pfaff ER, Champion J, Robasky K, Xu H, Fecho K, Walton NA, Zhu RL, Ramsdill J, Mungall CJ, Köhler S, Haendel MA, McDonald CJ, Vreeman DJ, Peden DB, Bennett TD, Feinstein JA, Martin B, Stefanski AL, Hunter LE, Chute CG, Robinson PN
    Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery
    NPJ Digit Med, 2019; 2:pii 32 PMID:31119199
  9. Ahalt SC, Chute CG, Fecho K, Glusman G, Hadlock J, Taylor CO, Pfaff ER, Robinson PN, Solbrig H, Ta C, Tatonetti N, Weng C
    Biomedical Data Translator Consortium. Clinical Data Sources and Types, Regulatory Constraints, Applications
    Clin Transl Sci, 2019; 12:329-333 PMID:31074176
  10. Hansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, Robinson PN
    GOPHER Generator Of Probes for capture Hi-C Experiments at high Resolution
    BMC Genomics, 2019; 20:40 PMID:30642251
  11. Bhushan R, Altinbas L, Jäger M, Zaradzki M, Lehmann D, Timmermann B, Clayton NP, Zhu Y, Kallenbach K, Kararigas G, Robinson PN
    An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology
    J Cell Mol Med, 2019; 23:2526-2535 PMID:30677223
  12. Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group
    An ontological foundation for ocular phenotypes and rare eye diseases
    Orphanet J Rare Dis, 2019; 14:8 PMID:30626441
  13. Mai K, Li L, Wiegand S, Brachs M, Leupelt V, Ernert A, Kühnen P, Hübner N, Robinson P, Chen W, Krude H, Spranger J
    An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body
    Diabetes, 2019; 68:57-65 PMID:30389745
  14. Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN
    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
    Nucleic Acids Res, 2019; 47:D1018–D1027 PMID:30476213

2018 Publications

  1. Haendel MA, Chute CG, Robinson PN
    Classification, Ontology, and Precision Medicine
    N Engl J Med, 2018; 379:1452-1462 PMID:30304648
  2. Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE
    Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses
    Bone, 2018; 113:29-40 PMID:29653293
  3. Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA
    Plain-language medical vocabulary for precision diagnosis
    Nat Genet, 2018; 50:474-476 PMID:29632381
  4. Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A
    Harmonising phenomics information for a better interoperability in the rare
    Eur J Med Genet, 2018; 61:706-714 PMID:29425702
  5. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
    Genome Med, 2018; 10:3 PMID:29310717
  6. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM
    Evaluation of exome filtering techniques for the analysis of clinically relevant genes
    Hum Mutat, 2018; 39:197-201 PMID:29193559
  7. Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM
    Evaluation of exome filtering techniques for the analysis of clinically relevant genes
    Hum Mutat, 2018; 39:197-201 PMID:29193559
  8. Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
    Genome Med, 2018; 10:3 PMID:29310717

2017 Publications

  1. Arif R, Zaradzki M, Remes A, Seppelt P, Kunze R, Schröder H, Schwill S, Ensminger SM, Robinson PN, Karck M, Müller OJ, Hecker M, Wagner AH, Kallenbach K
    AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome
    Mol Ther Nucleic Acids, 2017; 9:69-79 PMID:29246325
  2. Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS
    Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
    Adv Exp Med Biol, 2017; 1031:55-94 PMID:29214566
  3. Notaro M, Schubach M, Robinson PN, Valentini G
    Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods
    BMC Bioinformatics, 2017; 18:449 PMID:29025394
  4. Gehle P, Goergen B, Pilger D, Ruokonen P, Robinson PN, Salchow DJ
    Biometric and structural ocular manifestations of Marfan syndrome
    PLoS One, 2017; 12:e0183370 PMID:28931008
  5. Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC
    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
    Am J Hum Genet, 2017; 101:206-217 PMID:28735859
  6. Gehle P, Robinson PN, Heinzel F, Edelmann F, Yigitbasi M, Berger F, Falk V, Pieske B, Wellnhofer E
    NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome
    Int J Cardiol Heart Vasc, 2017; 12:15-20 PMID:28616536
  7. Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF
    Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm The National Institutes of Health Undiagnosed Diseases Program Experience
    Front Med (Lausanne), 2017; 4:62 PMID:28603714
  8. Schubach M, Re M, Robinson PN, Valentini G
    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants
    Sci Rep, 2017; 7:2959 PMID:28592878
  9. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H
    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
    Am J Hum Genet, 2017; 100:695-705 PMID:28475856
  10. Robinson PN,
    Once doesn't count Phenotype-driven gene hunting in cohorts
    Hum Mutat, 2017; 38:469 PMID:28425197
  11. Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C
    Bedside Back to Bench Building Bridges between Basic and Clinical Genomic Research
    Cell, 2017; 169:6-12 PMID:28340351
  12. Köhler S, Robinson PN
    Genetische Diagnostik seltener Erkrankungen. Integration von Phänotyp- und Genomdaten
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2017; 60:542-549 PMID:28293716
  13. Girdauskas E, Robinson PN, von Kodolitsch Y
    Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease From Simplification to Complexity to Simplicity?
    Am J Med, 2017; 130:e315-e316 PMID:28249667
  14. Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN
    The Human Phenotype Ontology in 2017
    Nucleic Acids Res, 2017; 45:D865-D876 PMID:27899602
  15. Mungall CJ, McMurry JA, Köhler S, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Lewis SE, NguyenXuan J, Shefchek K, Vasilevsky N, Yuan Z, Washington N, Hochheiser H, Groza T, Smedley D, Robinson PN, Haendel MA
    The Monarch Initiative an integrative data and analytic platform connecting phenotypes to genotypes across species
    Nucleic Acids Res, 2017; 45:D712-D722 PMID:27899636
  16. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC
    Nomenclature and definition in asymmetric regional body overgrowth
    Am J Med Genet A, 2017; 173:1735-1738 PMID:28475229
  17. Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T
    L1Base 2 more retrotransposition-active LINE-1s, more mammalian genomes.
    Nucleic Acids Res, 2017; 45:D68-D73 PMID:27924012
  18. Jerkovic I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González, Navarrete I, Robinson PN, Hecht J, Mundlos S
    Genome-Wide Binding of Posterior
    PLoS Genet, 2017; 13:e1006567 PMID:28103242
  19. Girdauskas E, Robinson PN, von Kodolitsch Y
    Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease From Simplification to Complexity to Simplicity?
    Am J Med, 2017; 130(7):e315-e31 PMID:28249667

2016 Publications

  1. Smedley D, Schubach M, Jacobsen JO, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN
    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
    Am J Hum Genet, 2016; 99:595-606 PMID:27569544
  2. Hansen P, Hecht J, Ibn-Salem J, Menkuec BS, Roskosch S, Truss M, Robinson PN
    Q-nexus a comprehensive and efficient analysis pipeline designed for ChIP-nexus
    BMC Genomics, 2016; 17:873 PMID:27814676
  3. Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN
    Alternate-locus aware variant calling in whole genome sequencing
    Genome Med, 2016; 8:130 PMID:27964746
  4. Heinrich V, Kamphans T, Mundlos S, Robinson PN, Krawitz PM
    A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data
    Bioinformatics, 2016; 33:72-78 PMID:27565584
  5. Lloyd KC, Robinson PN, MacRae CA
    Animal-based studies will be essential for precision medicine
    Sci Transl Med, 2016; 8:352ed12 PMID:27535618
  6. McMurry JA, Köhler S, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Xuan JN, Shefchek K, Vasilevsky NA, Yuan Z, Lewis SE, Hochheiser H, Groza T, Smedley D, Robinson PN, Mungall CJ, Haendel MA
    Navigating the Phenotype
    Genetics, 2016; 203:1491-1495 PMID:27516611
  7. Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM
    Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
    Hum Mutat, 2016; 37:737-744 PMID:27120253
  8. Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D
    A systematic, large-scale comparison of transcription factor binding site models
    BMC Genomics, 2016; 17:388 PMID:27209209
  9. Olech EM, Zemojtel T, Sowi\'{n}ska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A
    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach
    Pol J Pathol, 2016; 67:78-83 PMID:27179278
  10. Jiang Y, Oron TR, Clark WT, Bankapur AR, D'Andrea D, Lepore R, Funk CS, Kahanda I, Verspoor KM, Ben-Hur A, Koo da CE, Penfold-Brown D, Shasha D, Youngs N, Bonneau R, Lin A, Sahraeian SM, Martelli PL, Profiti G, Casadio R, Cao R, Zhong Z, Cheng J, Altenhoff A, Skunca N, Dessimoz C, Dogan T, Hakala K, Kaewphan S, Mehryary F, Salakoski T, Ginter F, Fang H, Smithers B, Oates M, Gough J, Törönen P, Koskinen P, Holm L, Chen CT, Hsu WL, Bryson K, Cozzetto D, Minneci F, Jones DT, Chapman S, Bkc D, Khan IK, Kihara D, Ofer D, Rappoport N, Stern A, Cibrian-Uhalte E, Denny P, Foulger RE, Hieta R, Legge D, Lovering RC, Magrane M, Melidoni AN, Mutowo-Meullenet P, Pichler K, Shypitsyna A, Li B, Zakeri P, ElShal S, Tranchevent LC, Das S, Dawson NL, Lee D, Lees JG, Sillitoe I, Bhat P, Nepusz T, Romero AE, Sasidharan R, Yang H, Paccanaro A, Gillis J, Sedeño-Cortés AE, Pavlidis P, Feng S, Cejuela JM, Goldberg T, Hamp T, Richter L, Salamov A, Gabaldon T, Marcet-Houben M, Supek F, Gong Q, Ning W, Zhou Y, Tian W, Falda M, Fontana P, Lavezzo E, Toppo S, Ferrari C, Giollo M, Piovesan D, Tosatto SC, Del Pozo A, Fernández JM, Maietta P, Valencia A, Tress ML, Benso A, Di Carlo S, Politano G, Savino A, Rehman HU, Re M, Mesiti M, Valentini G, Bargsten JW, van Dijk AD, Gemovic B, Glisic S, Perovic V, Veljkovic V, Veljkovic N, Almeida-E-Silva DC, Vencio RZ, Sharan M, Vogel J, Kansakar L, Zhang S, Vucetic S, Wang Z, Sternberg MJ, Wass MN, Huntley RP, Martin MJ, O'Donovan C, Robinson PN, Moreau Y, Tramontano A, Babbitt PC, Brenner SE, Linial M, Orengo CA, Rost B, Greene CS, Mooney SD, Friedberg I, Radivojac P
    An expanded evaluation of protein function prediction methods shows an improvement in accuracy
    Genome Biol, 2016; 17:184 PMID:27604469
  11. Passarge E, Robinson PN, Graul-Neumann LM
    Marfanoid-progeroid-lipodystrophy syndrome a newly recognized fibrillinopathy
    Eur J Hum Genet, 2016; 24:1244-1247 PMID:26860060
  12. Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K, Ensminger S, Robinson PN, Wagner AH, Karck M, Kallenbach K
    Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy
    PLoS One, 2016; 11:e0148012 PMID:26840980
  13. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D
    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
    Genet Med, 2016; 18:608-617 PMID:26562225
  14. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J
    Clinical utility gene card for Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
    Eur J Hum Genet, 2016; 24:146-150 PMID:26508578
  15. Oellrich A, Collier N, Groza T, Rebholz-Schuhmann D, Shah N, Bodenreider O, Boland MR, Georgiev I, Liu H, Livingston K, Luna A, Mallon AM, Manda P, Robinson PN, Rustici G, Simon M, Wang L, Winnenburg R, Dumontier M
    The digital revolution in phenotyping
    Brief Bioinform, 2016; 17:819-830 PMID:26420780

2015 Publications

  1. von Kodolitsch Y, Bernhardt AM, Robinson PN, Kölbel T, Reichenspurner H, Debus S, Detter C
    Analysis of Strengths, Weaknesses, Opportunities, and Threats as a Tool for Translating Evidence into Individualized Medical Strategies (I-SWOT)
    Aorta (Stamford), 2015; 3:98-107 PMID:27069939
  2. Rajab A, Hamza N, Al Harasi S, Al Lawati F, Gibbons U, Al Alawi I, Kobus K, Hassan S, Mahir G, Al Salmi Q, Mons B, Robinson P
    Repository of mutations from Oman The entry point to a national mutation database
    F1000Res, 2015; 4:891 PMID:26594346
  3. Brookes AJ, Robinson PN
    Human genotype-phenotype databases aims, challenges and opportunities
    Nat Rev Genet, 2015; 16:702-15 PMID:26553330
  4. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U
    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
    Am J Hum Genet, 2015; 97:483-492 PMID:26320891
  5. Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solís DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, Robinson PN
    Crowdsourced direct-to-consumer genomic analysis of a family quartet
    BMC Genomics, 2015; 16:910 PMID:26547235
  6. Collier N, Groza T, Smedley D, Robinson PN, Oellrich A, Rebholz-Schuhmann D
    PhenoMiner from text to a database of phenotypes associated with OMIM diseases
    Database (Oxford), 2015; 2015:pii bav104 PMID:26507285
  7. Mungall CJ, Washington NL, Nguyen-Xuan J, Condit C, Smedley D, Köhler S, Groza T, Shefchek K, Hochheiser H, Robinson PN, Lewis SE, Haendel MA
    Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
    Hum Mutat, 2015; 36:979-984 PMID:26269093
  8. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL
    The Matchmaker Exchange A Platform for Rare Disease Gene Discovery
    Hum Mutat, 2015; 36:915-921 PMID:26295439
  9. Goyal S, Jäger M, Robinson PN, Vanita V
    Confirmation of TTC8 as a Disease Gene for Nonsyndromic Autosomal Recessive Retinitis Pigmentosa (RP51)
    Clin Genet, 2015; 89:454-460 PMID:26195043
  10. Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M
    PhenomeCentral A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
    Hum Mutat, 2015; 36:931-940 PMID:26251998
  11. Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM
    Strategies to improve the performance of rare variant association studies by optimizing the selection of controls
    Bioinformatics, 2015; 31:3577-83 PMID:26249812
  12. Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN
    The Genomic Birthday Paradox How Much is Enough?
    Hum Mutat, 2015; 36:989-997 PMID:26239817
  13. Hansen P, Hecht J, Ibrahim D, Krannich A, Truss M, Robinson PN
    Saturation analysis of ChIP-seq data for reproducible identification of binding peaks
    Genome Res, 2015; 25:1391-1400 PMID:26163319
  14. von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN
    Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
    Appl Clin Genet, 2015; 8:137-155 PMID:26124674
  15. Smedley D, Jacobsen JOB, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske O, Bone WP, Haendel MA, Robinson PN
    Next-Generation Diagnostics and Disease Gene Discovery with the Exomiser
    Nat Protoc, 2015; 10:2004-2015 PMID:26562621
  16. Smedley D, Robinson PN
    Phenotype-Driven Strategies for Exome Prioritization of Human Mendelian Disease Genes
    Genome Medicine, 2015; 7:81 PMID:26229552
  17. Yang H, Robinson PN, Wang K
    Phenolyzer phenotype-based prioritization of candidate genes for human diseases
    Nat Methods, 2015; 12:841-843 PMID:26192085
  18. Robinson PN, Mungall CJ, Haendel MA
    Capturing Phenotypes for Precision Medicine
    Cold Spring Harbor Molecular Case Studies, 2015; 1:a000372
  19. Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D
    Disease insights through cross-species phenotype comparisons
    Mamm Genome, 2015; 26:548-555 PMID:26092691
  20. Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, Spielmann M
    FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - The emerging role of combined NGS and phenotype based strategies
    Eur J Med Genet, 2015; 58:376-380 PMID:26096994
  21. Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe W, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel M, Parkinson H, Robinson PN
    The Human Phenotype Ontology Semantic unification of common and rare disease
    Am J Human Genet, 2015; 97:111-124 PMID:26119816
  22. Kuchenbecker L, Nienen M, Hecht J, Neumann AU, Babel N, Reinert K, Robinson PN
    IMSEQ - a fast and error aware approach to immunogenetic sequence analysis
    Bioinformatics, 2015; 31:2963-2971 PMID:25987567
  23. Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN
    Towards a European consensus for reporting incidental findings during clinical NGS testing
    Eur J Hum Genet, 2015; 23:1601-6 PMID:26036857
  24. Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium
    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
    Genome Med, 2015; 7:36 PMID:25949529
  25. Groza T, Köhler S, Doelken S, Collier N, Oellrich A, Smedley D, Couto FM, Baynam G, Zankl A, Robinson PN
    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
    Database (Oxford), 2015; bav005:1-13 PMID:25725061
  26. Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, Cooper LD, Courtot M, Csösz S, Cui H, Dahdul W, Das S, Dececchi TA, Dettai A, Diogo R, Druzinsky RE, Dumontier M, Franz NM, Friedrich F, Gkoutos GV, Haendel M, Harmon LJ, Hayamizu TF, He Y, Hines HM, Ibrahim N, Jackson LM, Jaiswal P, James-Zorn C, Köhler S, Lecointre G, Lapp H, Lawrence CJ, Le Novére N, Lundberg JG, Macklin J, Mast AR, Midford PE, Mikó I, Mungall CJ, Oellrich A, Osumi-Sutherland D, Parkinson H, Ramírez MJ, Richter S, Robinson PN, Ruttenberg A, Schulz KS, Segerdell E, Seltmann KC, Sharkey MJ, Smith AD, Smith B, Specht CD, Squires RB, Thacker RW, Thessen A, Fernandez-Triana J, Vihinen M, Vize PD, Vogt L, Wall CE, Walls RL, Westerfeld M, Wharton RA, Wirkner CS, Woolley JB, Yoder MJ, Zorn AM, Mabee P
    Finding Our Way through Phenotypes
    PLoS Biol, 2015; 13:e1002033 PMID:25562316
  27. Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Ting W, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T
    Recessive inheritance of population-specific intronic LINE-1 insertion causes a Rotor syndrome phenotype
    Hum Mutat, 2015; 36:327-332 PMID:25546334
  28. von Kodolitsch Y, Blankart CR, Vogler M, Kallenbach K, Robinson PN
    Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms [Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome.]
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2015; 58:146-53 PMID:25446311
  29. Grünhagen J, Bhushan R, Degenkolbe E, Jäger M, Knaus P, Mundlos S, Robinson PN, Ott CE
    MiR-497~195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling
    J Bone Miner Res, 2015; 30:N796-808 PMID:25407900
  30. Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson P, Vingron M, Tinschert S, Mundlos S, Kolanczyk M
    Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
    Eur J Hum Genet, 2015; 23:870-873 PMID:25293717
  31. Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J
    Phenotyping Targeting genotype's rich cousin for diagnosis
    J Paediatr Child Health, 2015; 51:381-386 PMID:25109851
  32. Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D
    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
    Eur J Med Genet, 2015; 23:720 PMID:24916641

2014 Publications

  1. Sheikhzadeh S, De Backer J, Gorgan N, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, Robinson PN, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch Y
    The main pulmonary artery in adults a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome
    Orphanet J Rare Dis, 2014; 9:203 PMID:25491897
  2. Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR
    Pseudoautosomal region 1 length polymorphism in the human population
    PLoS Genet, 2014; 10:e1004578 PMID:25375121
  3. Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M
    Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
    Mol Genet Genomic Med, 2014; 2:393-401 PMID:25333064
  4. Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN
    First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
    Am J Med Genet, 2014; 164A:3170-5 PMID:25331754
  5. Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN
    Clinical interpretation of CNVs with cross-species phenotype data
    J Med Genet, 2014; 51:766-772 PMID:25280750
  6. Robinson PN
    Genomic data sharing for translational research and diagnostics
    Genome Medicine, 2014; 6:78 PMID:25473437
  7. Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, Spielmann M, Robinson PN
    Deletions of chromosomal regulatory boundaries are associated with congenital disease
    Genome Biology, 2014; 15:423 PMID:
  8. Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN
    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
    Science Transl Med, 2014; 6(252):A252ra123 PMID:25186178
  9. Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson PN, Berger J, Mir TS, Zeller T, Blankenberg S, von Kodolitsch Y, Goldmann B
    Total Serum Transforming Growth Factor-\(\beta\)1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes
    Clin Cardiol, 2014; 37:672-679 PMID:25113270
  10. Oellrich A, Koehler S, Washington N; Sanger Mouse Genetic Project, Mungall C, Lewis S, Haendel M, Robinson PN, Smedley D
    The influence of disease categories on gene candidate predictions from model organism phenotypes
    J Biomed Semantics, 2014; 5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S4 PMID:25093073
  11. Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN
    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
    Bioinformatics, 2014; 30:3215-3222 PMID:25078397
  12. Vanita V, Guo G, Singh D, Ott CE, Robinson PN
    Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes
    Mol Cell Biochem, 2014; 396:137-145 PMID:25064449
  13. Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS
    Clinical phenotype-based gene prioritization an initial study using semantic similarity and the human phenotype ontology
    BMC Bioinformatics, 2014; 15:248 PMID:25047600
  14. Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H
    RD-Connect An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research.
    J Gen Intern Med, 2014; 29 Suppl 3:780-789 PMID:25029978
  15. Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG
    Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
    Eur J Med Genet, 2014; 57:230-234 PMID:24613577
  16. Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN
    Jannovar A Java Library for Exome Annotation.
    Hum Mutat, 2014; 35:548-555 PMID:24677618
  17. Robinson PN, Webber C
    Phenotype Ontologies and Cross-Species Analysis for Translational Research
    PLoS Genet, 2014; 10:e1004268 PMID:24699242
  18. Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S
    Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4/5
    Birth Defects Res A Clin Mol Teratol, 2014; 100:314-318 PMID:24706454
  19. Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
    Am J Hum Genet, 2014; 94:278-287 PMID:24439110
  20. Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AOM, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BBA, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, {\bf Robinson PN}
    The Human Phenotype Ontology project linking molecular biology and disease through phenotype data
    Nucleic Acids Res, 2014; 42:D966-74 PMID:24217912
  21. Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall C, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D
    Improved exome prioritization of disease genes through cross species phenotype comparison
    Genome Res, 2014; 24*:340-348 PMID:24162188
  22. Horn D, Wieczorek D, Metcalfe K, Bari\'{c} I, Pale\v{z}ac L, Cuk M, Petkovi\'{c} Ramad\v{z}a D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P
    Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
    Eur J Hum Genet, 2014; 22:762-767 PMID:24129430

2013 Publications

  1. Aydin A, Adsay BA, Sheikhzadeh S, Keyser B, Rybczynski M, Sondermann C, Detter C, Steven D, Robinson PN, Berger J, Schmidtke J, Blankenberg S, Willems S, von Kodolitsch Y, Hoffmann BA
    Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused byFBN1 Mutations
    PLoS One, 2013; 8:e81281 PMID:24349050
  2. Smedley D, Oellrich A, Köhler S, Ruef B; Sanger Mouse Genetics Project, Westerfield M, Robinson P, Lewis S, Mungall C
    PhenoDigm analyzing curated annotations to associate animal models with human diseases
    Database (Oxford), 2013; bat025:doi10.1093/database/bat025 PMID:23660285
  3. Köhler S, Doelken SC, Ruef BJ, Bauer S, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, Robinson PN, Mungall CJ
    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
    F1000Res, 2013; 2:30 PMID:24358873
  4. Guo G, Ott CE, Grünhagen J, Muñoz-García B, Pletschacher A, Kallenbach K, von Kodolitsch Y, Robinson PN
    Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice
    Aorta (Stamford), 2013; 1:5-12 PMID:26798667
  5. Robinson PN
    A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation
    Hum Mutat, 2013; 34:12 PMID:24227377
  6. Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann CR, Brockstaedt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson PN, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y
    Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
    Clin Genet, 2013; 86:238-245 PMID:23991918
  7. Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J
    Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Genome Res, 2013; 23:2091-102 PMID:23995701
  8. Dziubianau M, Hecht J, Kuchenbecker L, Sattler A, Stervbo U, Rödelsperger C, Nickel P, Neumann AU, Robinson PN, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N
    TCR Repertoire Analysis by Next Generation Sequencing Allows Complex Differential Diagnosis of T Cell-Related Pathology
    Am J Transplant, 2013; 13:2842-2854 PMID:24020931
  9. Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM
    Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees
    PLoS One, 2013; 8:e70151 PMID:23940540
  10. Grosjean J, Merabti T, Soualmia LF, Letord C, Charlet J, Robinson PN, Darmoni SJ
    Integrating the Human Phenotype Ontology into HeTOP Terminology-Ontology Server
    Stud Health Technol Inform, 2013; 192:961 PMID:23920735
  11. Heinrich V, Kamphans T, Stange J, Parkhomchuk D, Dickhaus T, Hecht J, Robinson PN, PN, Krawitz PM
    Estimating Exome Genotyping Accuracy by Comparing to Data from Large Scale Sequencing Projects
    Genome Med, 2013; 5:69 PMID:23902830
  12. Guo G, Rödelsperger C, Digweed M, , Robinson PN
    Regulation of fibrillin-1 gene expression by Sp1
    Gene, 2013; 527:448-455 PMID:23860323
  13. Krawitz PM, Höchsmann B, Murakami Y, Teubner B, Krüger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H
    A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT
    Blood, 2013; 122:1312-1215 PMID:23733340
  14. Krawitz PM, Murakami Y, Rie\ss{} A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
    PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome
    Am J Hum Genet, 2013; 92:584-589 PMID:23561847
  15. Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN
    Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
    Eur J Hum Genet, 2013; 21:1105-1111 PMID:23463027
  16. Kotlarz D, Zietara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchalka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C
    Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
    J Exp Med, 2013; 210:433-443 PMID:23440042
  17. Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY
    Getting ready for the Human Phenome Project the 2012 forum of the Human Variome Project
    Hum Mutat, 2013; 34:661-666 PMID:23401191
  18. Schwill S, Seppelt P, Grünhagen J, Ott CE, Jugold M, Ruhparwar A, Robinson PN, Karck M, Kallenbach K
    The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta
    J Vasc Surg, 2013; 57:1628-1636 PMID:23294503
  19. Kühne K, Keyser B, Groene EF, Sheikhzadeh S, Detter C, Lorenzen V, Hillebrand M, Bernhardt AM, Hoffmann B, Mir TS, Robinson PN, Berger J, Reichenspurner H, von Kodolitsch Y, Rybczynski M
    FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression
    Int J Cardiol, 2013; 168:953-959 PMID:23176764
  20. Doelken SC, Köhler S, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, Bauer S, Klopocki E, Schofield PN, Westerfield M, Robinson PN, Lewis SE
    Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
    Dis Model Mech, 2013; 6:358-372 PMID:23104991
  21. Guo G, Muñoz-García B, Ott CE, Grünhagen J, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, Robinson PN
    Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice
    Hum Mol Genet, 2013; 22:433-443 PMID:23100322
  22. Aydin A, Desai N, Bernhardt AM, Treede H, Detter C, Sheikhzadeh S, Rybczynski M, Hillebrand M, Lorenzen V, Mortensen K, Robinson PN, Berger J, Reichenspurner H, Meinertz T, Willems S, von Kodolitsch Y
    Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease
    Int J Cardiol, 2013; 164:301-305 PMID:21802748

2012 Publications

  1. Bhushan R, Grünhagen J, Becker J, Robinson PN, Ott CE, Knaus P
    miR-181a promotes osteoblastic differentiation through repression of TGF-\(\beta\) signaling molecules
    Int J Biochem Cell Biol, 2012; 45:696-705 PMID:23262291
  2. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviére JB, Boileau C, De Paepe A, Faivre L
    In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
    Am J Human Genet, 2012; 91:950-957 PMID:23103230
  3. Saini S, Robinson PN, Singh JR, Vanita V
    A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
    Exp Eye Res, 2012; 104:82-88 PMID:23041261
  4. Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S
    Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
    Am J Hum Genet, 2012; 91:629-635 PMID:23022097
  5. Bauer S, Köhler S, Schulz MH, Robinson PN
    Bayesian Ontology Querying for Accurate and Noise-Tolerant Semantic Searches
    Bioinformatics, 2012; 28:2502-2508 PMID:22843981
  6. Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, Robinson PN, Sobrido MJ
    Querying phenotype-genotype relationships on patient datasets using semantic web technology the example of cerebrotendinous xanthomatosis
    BMC Med Inform Decis, 2012; 12:78 PMID:22849591
  7. Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H
    Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
    Mol Syndromol, 2012; 3:6-13 PMID:22855649
  8. Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduro\v{g}lu K
    Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene
    Turk J Pediatr, 2012; 54:198-202 PMID:22734312
  9. Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
    Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
    Am J Hum Genet, 2012; 91:146-151 PMID:22683086
  10. Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN
    Ontological phenotype standards for neurogenetics
    Hum Mutat, 2012; 33:1333-1339 PMID:22573485
  11. Robinson PN
    Deep phenotyping for precision medicine
    , 2012; 33**:777-780 PMID:22504886
  12. Chen CK, Mungall CJ, Gkoutos GV, Doelken SC, Köhler S, Ruef BJ, Smith C, Westerfield M, Robinson PN, Lewis SE, Schofield PN, Smedley D
    MouseFinder candidate disease genes from mouse phenotype data
    Hum Mutat, 2012; 33:858-866 PMID:22331800
  13. Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE
    Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)
    Am J Med Genet A., 2012; 158A:553-558 PMID:22315194
  14. Sheikhzadeh S, Kusch ML, Rybczynski M, Kade C, Keyser B, Bernhardt AM, Hillebrand M, Mir TS, Fuisting B, Robinson PN, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y
    A simple clinical model to estimate the probability of Marfan syndrome
    QJM, 2012; 105:527-535 PMID:22301820
  15. Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T
    Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia-mental retardation syndrome
    J Biol Chem, 2012; 287:6318-6325 PMID:22228761
  16. Heinrich V, Stange J, Dickhaus T, Imkeller P, Krüger U, Bauer S, Mundlos S, Robinson PN, Hecht J, Krawitz PM
    The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process
    Nucleic Acids Res, 2012; 40:2426-2431 PMID:22127862
  17. Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt A, Habermann C, Hillebrand M, Mir T, Robinson P, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y
    Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome
    Clin Genet, 2012; 82:240-247 PMID:21883168

2011 Publications

  1. Huang J, Mirel D, Pugh E, Xing C, Robinson PN, Pertsemlidis A, Ding L, Kozlitina J, Maher J, Rios J, Story M, Marthandan N, Scheuermann RH
    Minimum Information about a Genotyping Experiment (MIGEN)
    Stand Genomic Sci, 2011; 5:224-229 PMID:22180825
  2. Robinson PN, Arslan-Kirchner M, Gehle P, Schmidtke J, von Kodolitsch Y
    Das Marfan-Syndrom und verwandte monogene Krankheiten der Aorta
    medizinische genetik, 2011; 23*:407-420
  3. Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H
    Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly
    Cell Cycle, 2011; 10:2967-2677 PMID:21857152
  4. Schulz MH, Köhler S, Bauer S, Robinson PN
    Exact Score Distribution Computation for Ontological Similarity Searches
    BMC Bioinformatics, 2011; 12:441 PMID:22078312
  5. Köhler S, Bauer S, Mungall CJ, Carletti G, Smith CL, Schofield P, Gkoutos GV, Robinson PN
    Improving ontologies by automatic reasoning and evaluation of logical definitions
    BMC Bioinformatics, 2011; 12:418 PMID:22032770
  6. Guo G, Gehle P, Doelken S, Martin-Ventura JL, von Kodolitsch Y, Hetzer R, Robinson PN
    Induction of Macrophage Chemotaxis by Aortic Extracts from Patients with Marfan Syndrome Is Related to Elastin Binding Protein
    PLoS ONE, 2011; 6:e20138
  7. Robinson PN, Krawitz P, Mundlos S
    Strategies for Exome and Genome Sequence Data Analysis in Disease Gene Discovery Projects
    Clin Genet, 2011; 80:127-132 PMID:21615730
  8. Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ
    Call for participation in the neurogenetics consortium within the Human Variome Project
    Neurogenetics, 2011; 12:169-173 PMID:21630033
  9. Bauer S, Robinson PN, Gagneur J
    Model-based Gene Set Analysis for Bioconductor
    Bioinformatics, 2011; 27*:1882-3 PMID:21561920
  10. Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M
    Neurofibromin (Nf1) is required for skeletal muscle development
    Hum Mol Genet, 2011; 20:2697-709 PMID:21478499
  11. Rybczynski M, Treede H, Sheikhzadeh S, Groene EF, Bernhardt AM, Hillebrand M, Mir TS, Kühne K, Koschyk D, Robinson PN, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y
    Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome
    Am J Cardiol, 2011; 107:268-274 PMID:21211604
  12. Horn D, Robinson PN
    Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final exon of the FBN1 gene
    Am J Med Genet A, 2011; 155:721-724 PMID:21594993
  13. Jäger M, Ott CE, Grunhagen J, Hecht J, Schell H, Mundlos S, Duda GN, Robinson PN, Lienau J
    Composite Transcriptome Assembly of RNA-seq data in a Sheep Model for Delayed Bone Healing
    BMC Genomics, 2011; 12:158 PMID:21435219
  14. Aydin A, Mortensen K, Rybczynski M, Sheikhzadeh S, Willmann S, Bernhardt AM, Hillebrand M, Stritzke J, Baulmann J, Schunkert H, Keil U, Hense HW, Meisinger C, Robinson PN, Berger J, Willems S, Meinertz T, von Kodolitsch Y
    Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease
    Int J Cardiol, 2011; 147:466-468 PMID:21295359
  15. Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, Jonske de Condor B, Michal Schweiger MR, Robinson PN
    Identity-By-Descent Filtering of Exome Sequence data for Disease-Gene Identification in Autosomal Recessive Disorders
    Bioinformatics, 2011; 27:829-836 PMID:21278187
  16. Ott CE, Grünhagen J, Jäger M, Horbelt D, Schwill S, Kallenbach K, Guo G, Manke T, Knaus P, Mundlos S, Robinson PN
    MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3' UTR and Coding-Sequence Binding Sites
    PLoS ONE, 2011; 6:e16250 PMID:21305018
  17. Lindblom A, Robinson PN
    Bioinformatics for Human Genetics Promises and Challenges
    Hum Mutat, 2011; 32:495-500 PMID:21520331
  18. Rödelsperger C, Guo G, Kolanzyk M, Pletschacher A, Köhler S, Bauer S, Schulz MH, Robinson PN
    Integrative analysis of genomic, functional, and protein-interaction data predicts long-range enhancer-target gene interactions
    Nucleic Acids Res, 2011; 39:2492-2502 PMID:21109530

2010 Publications

  1. Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E
    Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene
    Am J Med Genet A, 2010; 152A:2749-2755 PMID:20979188
  2. Howard HJ, Horaitis O, Cotton RG, Vihinen M, Dalgleish R, Robinson P, Brookes AJ, Axton M, Hoffmann R, Tuffery-Giraud S
    The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"
    Hum Mutat, 2010; 31:366-367 PMID:20052753
  3. Robinson PN
    Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
    Genome Biol, 2010; 11:144 PMID:21172032
  4. Rybczynski M, Mir TS, Sheikhzadeh S, Bernhardt AM, Schad C, Treede H, Veldhoen S, Groene EF, Kühne K, Koschyk D, Robinson PN, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y
    Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome
    Am J Cardiol, 2010; 106:1048-1053 PMID:20854973
  5. Horbelt D, Guo G, Robinson PN, Knaus P
    Quantitative Analysis of TGFBR2 Mutations in Marfan Syndrome Related Disorders Suggests Correlation between Phenotypic Severity and Smad Signaling
    J Cell Sci, 2010; 123:4340-4350 PMID:21098638
  6. Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G
    Cardiovascular manifestations in men and women carrying a FBN1 mutation
    Eur Heart J, 2010; 31:2223-2229 PMID:20709720
  7. Sheikhzadeh S, Rybczynski M, Habermann CR, Bernhardt AM, Arslan-Kirchner M, Keyser B, Kaemmerer H, Mir TS, Staebler A, Oezdal N, Robinson PN, Berger J, Meinertz T, von Kodolitsch Y
    Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2
    Clin Genet, 2010; 79:568-574 PMID:20662850
  8. Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Gr\"nhagen J, Jonske de Condor B, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN
    Identity-by-Descent Filtering of Exome Sequence Data identifies PIGV mutations in Hyperphosphatasia Mental Retardation syndrome (HPMR)
    Nat Genet, 2010; 42*:827-829 PMID:20802478
  9. Robinson PN, Mundlos S
    The Human Phenotype Ontology
    Clin Genet, 2010; 77:525-534 PMID:20412080
  10. Doelken SC, Köhler S, Bauer S, Krawitz P, Horn D, Mundlos S, Robinson PN
    Neue Wege in der bioinformatischen Phänotypanalyse Die Human Phenotype Ontology
    medizinische genetik, 2010; 22:221-228
  11. Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt AM, Habermann CR, Treede H, Berger J, Robinson PN, Meinertz T, von Kodolitsch Y
    Frequency of sleep apnea in adults with the Marfan syndrome
    Am J Cardiol, 2010; 105:1836-1841 PMID:20538140
  12. Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, Robinson PN, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y
    Augmentation index and the evolution of aortic disease in Marfan-like syndromes
    Am J Hypertens, 2010; 23:716-724 PMID:20395939
  13. von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A, Robinson PN, Sheikhzadeh S, Reichenspurner H, Meinertz T
    Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease do we need genetics for clinical decisions?
    VASA, 2010; 39:17-32 PMID:20186673
  14. Bauer S, Gagneur J, Robinson PN
    GOing Bayesian model-based gene set analysis of genome-scale data
    Nucleic Acids Res, 2010; 38:3523-3532
  15. Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN
    Microindel detection in short-read sequence data
    Bioinformatics, 2010; 26:722-729 PMID:20144947

2009 Publications

  1. Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
    Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
    Am J Hum Genet, 2009; 85:457-64 PMID:19800049
  2. Rödelsperger C, Köhler S, Schulz MH, Manke T, Manke T, Robinson PN
    Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts
    Genomics, 2009; 94:308-316 PMID:19660540
  3. Schulz MH, Köhler S, Bauer S, Vingron M, Robinson PN
    Exact Score Distribution Computation for Similarity Searches in Ontologies
    Springer Lecture Notes in Computer Science (Proceedings of the Workshop of Algorithmic Bioinformatics; WABI09), 2009; 5724:298-309
  4. Gkoutos GV, Mungall C, Dölken S, Ashburner M, Lewis S, Köhler S, Robinson PN
    Entity/Quality-Based Logical Definitions for the Human Skeletal Phenome using PATO
    IEEE Xplore (Proceedings of the 31st Engineering in Medicine and Biology IEEE conference), 2009; 1:7069-7072 PMID:19964203
  5. Mortensen K, Aydin MA, Rybczynski M, Baulmann J, Abdul Schahidi N, Kean G, Kühne K, Bernhardt AM, Franzen O, Mir T, Habermann C, Koschyk D, Ventura R, Willems S, Robinson PN, Berger J, Reichenspurner H, Meinertz T, von Kodolitsch Y
    Augmentation Index Relates to Progression of Aortic Disease in Adults With Marfan Syndrome
    Am J Hypertens, 2009; 22:971-979 PMID:19574960
  6. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
    Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
    Am J Med Genet A, 2009; 149A:854-860 PMID:19353630
  7. Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah A, Kuss A, Humphrey N, Mundlos S, Robinson PN
    A CA8 mutation causes a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    PLoS Genet, 2009; 5:e1000487 PMID:19461874
  8. Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, Kornak U, Duda G, Mundlos S, Robinson PN
    Promiscuous and Depolarization-Induced Immediate-Early Response Genes are Induced by Mechanical Strain of Osteoblasts
    J Bone Miner Res, 2009; 24:1247-1262 PMID:19257815
  9. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
    Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
    Pediatrics, 2009; 123:391-398 PMID:19117906

2008 Publications

  1. Faivre L, Collod-Béroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C
    Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
    Eur J Hum Genet, 2008; 17:491-501 PMID:19002209
  2. Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S
    The Human Phenotype Ontology A Tool for Annotating and Analyzing Human Hereditary Disease
    Am J Hum Genet, 2008; 83:610-615 PMID:18950739
  3. Köhler S, Bauer S, Horn D, Robinson PN
    Walking the interactome for prioritization of candidate disease genes
    Am J Hum Genet, 2008; 82:949-58 PMID:18371930
  4. Schulz MH, Bauer S, Robinson PN
    The Generalized k-Truncated Suffix Tree for Time- and Space-Efficient Searches in Multiple DNA or Protein Sequences
    Int J Bioinform Res Appl, 2008; 4:81-95 PMID:18283030
  5. Bauer S, Grossmann S, Vingron M, Robinson PN
    Ontologizer 2.0-a multifunctional tool for GO term enrichment analysis and data exploration
    Bioinformatics, 2008; 24:1650-1651 PMID:18511468
  6. Faivre L, Collod-Béroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglu A, Comeglio P, Narziliano N, Halliday D, Béroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
    Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies an international study of 1009 probands
    J Med Genet, 2008; 45:384-90 PMID:18310266
  7. Guo G, Bauer S, Hecht J, Schulz MH, Busche A, Robinson PN
    A short ultraconserved sequence drives transcription from an alternate FBN1 promoter
    Int J Biochem Cell Biol, 2008; 40:638-50 PMID:17996480
  8. Rybczynski M, Bernhardt AM, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, Robinson PN, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y
    The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
    Am J Med Genet A, 2008; 146A:3157-3166 PMID:19012347
  9. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
    Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies an international study of 1009 probands
    J Med Genet, 2008; 45:384-390 PMID:18310266

2007 Publications

  1. Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K
    A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin
    Mol Vis, 2007; 13:2035-40 PMID:18079676
  2. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C
    Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations an international study
    Am J Hum Genet, 2007; 81:454-466 PMID:17701892
  3. Grossmann S, Bauer S, Robinson PN, Vingron M
    Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis
    Bioinformatics, 2007; 23:3024-3031 PMID:17848398
  4. von Kodolitsch Y, Robinson PN
    Marfan syndrome An update of Genetics, Medical and Surgical Management
    Heart, 2007; 93:755-760 PMID:17502658
  5. Rybczynski M, Koschyk DH, Aydin MA, Robinson PN, Brinken T, Franzen O, Berger J, Hofmann T, Meinertz T, von Kodolitsch Y
    Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome
    Clin Cardiol, 2007; 30:19-24 PMID:17262773
  6. Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S
    Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model
    Gene Expr Patterns, 2007; 7:102-112 PMID:16829211

2006 Publications

  1. Jochen Hecht, Heiner Kuhl, Stefan A Haas, Sebastian Bauer, Albert J Poustka, Jasmin Lienau, Hanna Schell, Asita C Stiege, Volkhard Seitz, Richard Reinhardt, Georg N Duda, Stefan Mundlos, Robinson PN
    Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep
    BMC Genomics, 2006; 7:172 PMID:16822315
  2. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S
    Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal gamma Subunit
    Am J Hum Genet, 2006; 79:303-312 PMID:16826520
  3. Ladewig MS, Robinson PN, Neumann LM, Holz FG, Foerster MH
    Okuläre Manifestationen und chirurgische Ergebnisse beim Marfan-Syndrom
    Ophthalmologe, 2006; 103:777-82 PMID:16819661
  4. Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
    The molecular genetics of Marfan syndrome and related disorders
    J Med Genet, 2006; 43:769-87 PMID:16571647
  5. Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S
    Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding
    Hum Mutat, 2006; 27:599-600 PMID:16705711
  6. Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R
    A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
    Am J Med Genet A, 2006; 140:873-877 PMID:16528753
  7. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR
    A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant cerulean cataract in an Indian family
    Am J Med Genet A, 2006; 140:558-66 PMID:16470690
  8. Grossmann S, Bauer S, Robinson PN, Vingron M
    An Improved Statistic for Detecting Over-represented Gene Ontology Annotations in Gene Sets
    Lecture Notes in Computer Science (Proceedings of RECOMB 2006), 2006; 3909:85-98
  9. Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJP, Robinson PN
    A Fibrillin-1-Fragment Containing the Elastin-Binding-Protein GxxPG Consensus Sequence Upregulates MMP-1 Expression Biochemical and Computational Analysis
    J Mol Cell Cardiol, 2006; 40:234-246 PMID:16442122
  10. Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN
    Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment
    Circulation, 2006; 114:1855-1862 PMID:17030689
  11. Gille C, Robinson PN
    HotSwap for Bioinformatics A STRAP Tutorial
    BMC Bioinformatics, 2006; 7:64
  12. Beattie BJ, Robinson PN
    Binary State Pattern Clustering A Digital Paradigm for Class and Biomarker Discovery
    J Comput Biol, 2006; 13:1114-1130 PMID:16442122
  13. Andreas Ney, Patrick Booms, Guido Epple, Matthias Mörgelin, Gao Guo, Gerhard Kettelgerdes, Reinhard Ge{\ss}ner Robinson PN
    Calcium-dependent self-association of the C-type lectin domain of versican
    Int J Biochem Cell Biol, 2006; 38:23-29 PMID:16159712
  14. Robinson PN, Neumann LM, Tinschert S
    Response to Kosaki et al. Molecular pathology of Shprintzen-Goldberg syndrome (Letter)
    Am J Med Genet A, 2006; 140A:109-110

2005 Publications

  1. Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S
    Shprintzen-Goldberg syndrome Fourteen new patients and a clinical analysis
    Am J Med Genet A, 2005; 135:251-62 PMID:15884042
  2. Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN
    RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture a potential factor in the pathogenesis of the Marfan syndrome
    Hum Genet, 2005; 116:51-61 PMID:15517394

2004 Publications

  1. Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S
    A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
    Hum Mol Genet, 2004; 13:2351-2359 PMID:15333588
  2. Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P
    Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis
    Hum Mol Genet, 2004; 13:1969-78 PMID:15254011
  3. Robinson PN, Wollstein A, Böhme U, Beattie B
    Ontologizing gene-expression microarray data characterizing clusters with Gene Ontology
    Bioinformatics, 2004; 20:979-81 PMID:14764576

2003 Publications

  1. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson PN, Steinmann B, Junien C, Beroud C, Boileau C
    Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database
    Hum Mutat, 2003; 22:199-208 PMID:12938084

2002 Publications

  1. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F Tiecke F, Rosenberg T
    FBN1 Mutations and Genotype-Phenotype Correlations in Marfan Syndrome and Related Fibrillinopathies
    Hum Mutat, 2002; 20:153-161 PMID:12203987
  2. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann L, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN
    TGGE Screening of the Entire FBN1 Coding Sequence in 126 Individuals with Marfan Syndrome and Related Fibrillinopathies
    Hum Mutat, 2002; 20:197-208 PMID:12203992

2001 Publications

  1. Robinson PN, Booms P
    The molecular pathogenesis of Marfan syndrome
    Cell Mol Life Sci, 2001; 8:1698-1707 PMID:11706995
  2. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
    Classic, atypically severe and neonatal Marfan syndrome 12 Novel Mutations and Genotype-Phenotype Correlations inFBN1 Exons 24-40
    Eur J Hum Genet, 2001; 9:13-21 PMID:11175294

2000 Publications

  1. Robinson PN, Godfrey M
    The Molecular Genetics of the Marfan Syndrome and Related Microfibrillopathies
    J Med Genet, 2000; 37:7-25 PMID:10633129
  2. Booms P, Tiecke F, Rosenberg T, Hagemeier C, Robinson PN
    Differential effect ofFBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments
    Hum Genet, 2000; 107:216-224 PMID:11071382
  3. Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Vetter B, Hagemeier C, Robinson PN
    Clustering of Mutations Associated with Mild Marfan-like Phenotypes in the 3' Region of FBN1 suggests a Potential Genotype-Phenotype Correlation
    Am J Med Genet, 2000; 91:212-221 PMID:10756346

1999 Publications

  1. Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN
    Novel exon skipping mutation in the fibrillin-1 gene two 'hot spots' for the neonatal Marfan syndrome
    Clin Genet, 1999; 55:110-117 PMID:10189088

1998 Publications

  1. Gille C, Gille A, Booms P, Robinson PN, Nürnberg P
    Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis
    Electrophoresis, 1998; 19:1347-1350 PMID:9694279
  2. Klose A, Robinson PN, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H
    Two novel mutations in exons 19a and 20 and a BsaL polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
    Hum Genet, 1998; 102:367-371 PMID:9544853

1997 Publications

  1. Booms P, Withers AP, Boxer M, Kaufmann UC, Hagemeier C, Vetter U, Robinson PN
    A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
    Hum Genet, 1997; 100:195-200 PMID:9254848
  2. Boddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P
    New evidence for a mutation hotspot in exon 37 of the NF1 gene
    Hum Mutat, 1997; 9:374-377 PMID:9101303

1996 Publications

  1. Horn D, Robinson PN, Boddrich A, Buske A, Tinschert S, Nürnberg P
    Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8
    Electrophoresis, 1996; 17:1559-1563 PMID:8957181
  2. Robinson PN, Buske A, Neumann R, Tinschert S, Nürnberg P
    Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis
    Hum Mutat, 1996; 7:85-88 PMID:8664912
  3. Robinson PN, Heidrich B, Tiecke F, Fehrenbach FJ, Rolfs
    A Species-specific detection of Legionella using polymerase chain reaction and reverse dot-blotting
    FEMS Microbiol Lett, 1996; 140:111-119 PMID:8764471

1995 Publications

  1. Robinson PN, Boddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P
    Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene
    Hum Genet, 1995; 96:95-98 PMID:7607663

1994 Publications

  1. Tiecke F, Robinson PN, Steinhoff D, Fehrenbach FJ, Rolfs A
    Automated direct sequencing of Legionella 5S rDNA
    Med Microbiol Lett, 1994; 3:279-290
  2. Heidrich B, Robinson PN, Tiecke F, Steinhoff D, Fehrenbach FJ, Rolfs A
    Genetische Verwandtschaft innerhalb des Genus Legionella. DNS Sequenzuntersuchungen an ribosomalen Genen
    Klinisches Labor, 1994; 40:211-216