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

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; doi 10.1002/pd.6522:Epub ahead of print PMID:38242839
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
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
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
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
Karlebach G, Robinson PN
Computing Minimal Boolean Models of Gene Regulatory Networks
J Comput Biol, 2024; 31(2):117-127 PMID:37889991

2023 Publications

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
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
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
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
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
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
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
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
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
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
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
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:
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
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
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
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
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
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

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
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:
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:
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
Robinson PN, Graessner H
Datenstandards für Seltene Erkrankungen
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2022; 65(11):1126-1132 PMID:
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:
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
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
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
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
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
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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
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
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
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
Robinson PN, Haendel MA
Ontologies, Knowledge Representation, and Machine Learning for Translational Research Recent Contributions
Yearb Med Inform, 2020; 29:159-162 PMID:32823310
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
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
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
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
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
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
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
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
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

Haendel MA, Chute CG, Robinson PN
Classification, Ontology, and Precision Medicine
N Engl J Med, 2018; 379:1452-1462 PMID:30304648
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
Robinson PN,
Once doesn't count Phenotype-driven gene hunting in cohorts
Hum Mutat, 2017; 38:469 PMID:28425197
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
Köhler S, Robinson PN
Genetische Diagnostik seltener Erkrankungen. Integration von Phänotyp- und Genomdaten
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2017; 60:542-549 PMID:28293716
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
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
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
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
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
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
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

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
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
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
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
Lloyd KC, Robinson PN, MacRae CA
Animal-based studies will be essential for precision medicine
Sci Transl Med, 2016; 8:352ed12 PMID:27535618
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
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
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
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
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
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
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
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
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
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

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
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
Brookes AJ, Robinson PN
Human genotype-phenotype databases aims, challenges and opportunities
Nat Rev Genet, 2015; 16:702-15 PMID:26553330
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
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
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
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
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
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
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
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
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
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
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
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
Smedley D, Robinson PN
Phenotype-Driven Strategies for Exome Prioritization of Human Mendelian Disease Genes
Genome Medicine, 2015; 7:81 PMID:26229552
Yang H, Robinson PN, Wang K
Phenolyzer phenotype-based prioritization of candidate genes for human diseases
Nat Methods, 2015; 12:841-843 PMID:26192085
Robinson PN, Mungall CJ, Haendel MA
Capturing Phenotypes for Precision Medicine
Cold Spring Harbor Molecular Case Studies, 2015; 1:a000372
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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
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
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
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
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
Robinson PN
Genomic data sharing for translational research and diagnostics
Genome Medicine, 2014; 6:78 PMID:25473437
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:
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
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
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
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
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
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
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
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
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
Robinson PN, Webber C
Phenotype Ontologies and Cross-Species Analysis for Translational Research
PLoS Genet, 2014; 10:e1004268 PMID:24699242
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
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
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
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
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

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
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
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
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
Robinson PN
A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation
Hum Mutat, 2013; 34:12 PMID:24227377
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
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
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
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
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
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
Guo G, Rödelsperger C, Digweed M, , Robinson PN
Regulation of fibrillin-1 gene expression by Sp1
Gene, 2013; 527:448-455 PMID:23860323
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
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
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
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN
Ontological phenotype standards for neurogenetics
Hum Mutat, 2012; 33:1333-1339 PMID:22573485
Robinson PN
Deep phenotyping for precision medicine
, 2012; 33**:777-780 PMID:22504886
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
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
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
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
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
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

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
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
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
Schulz MH, Köhler S, Bauer S, Robinson PN
Exact Score Distribution Computation for Ontological Similarity Searches
BMC Bioinformatics, 2011; 12:441 PMID:22078312
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
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
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
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
Bauer S, Robinson PN, Gagneur J
Model-based Gene Set Analysis for Bioconductor
Bioinformatics, 2011; 27*:1882-3 PMID:21561920
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
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
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
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
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
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
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
Lindblom A, Robinson PN
Bioinformatics for Human Genetics Promises and Challenges
Hum Mutat, 2011; 32:495-500 PMID:21520331
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

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
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
Robinson PN
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
Genome Biol, 2010; 11:144 PMID:21172032
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
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
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
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
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
Robinson PN, Mundlos S
The Human Phenotype Ontology
Clin Genet, 2010; 77:525-534 PMID:20412080
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
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
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
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
Bauer S, Gagneur J, Robinson PN
GOing Bayesian model-based gene set analysis of genome-scale data
Nucleic Acids Res, 2010; 38:3523-3532
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

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
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
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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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

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
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
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
von Kodolitsch Y, Robinson PN
Marfan syndrome An update of Genetics, Medical and Surgical Management
Heart, 2007; 93:755-760 PMID:17502658
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
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

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
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
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
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
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
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
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
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
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
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
Gille C, Robinson PN
HotSwap for Bioinformatics A STRAP Tutorial
BMC Bioinformatics, 2006; 7:64
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
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
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

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
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

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
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
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

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

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
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

Robinson PN, Booms P
The molecular pathogenesis of Marfan syndrome
Cell Mol Life Sci, 2001; 8:1698-1707 PMID:11706995
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

Robinson PN, Godfrey M
The Molecular Genetics of the Marfan Syndrome and Related Microfibrillopathies
J Med Genet, 2000; 37:7-25 PMID:10633129
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
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

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

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
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

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
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

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
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
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

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

Tiecke F, Robinson PN, Steinhoff D, Fehrenbach FJ, Rolfs A
Automated direct sequencing of Legionella 5S rDNA
Med Microbiol Lett, 1994; 3:279-290
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