2021
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 (2021) 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 118(2):e2014481118. PubMed
Haendel MA, Chute CG, Bennett TD, Eichmann DA, Guinney J, Kibbe WA, Payne PRO, Pfaff ER, Robinson PN, Saltz JH, Spratt H, Suver C, Wilbanks J, Wilcox AB, Williams AE, Wu C, Blacketer C, Bradford RL, Cimino JJ, Clark M, Colmenares EW, Francis PA, Gabriel D, Graves A, Hemadri R, Hong SS, Hripscak G, Jiao D, Klann JG, Kostka K, Lee AM, Lehmann HP, Lingrey L, Miller RT, Morris M, Murphy SN, Natarajan K, Palchuk MB, Sheikh U, Solbrig H, Visweswaran S, Walden A, Walters KM, Weber GM, Zhang XT, Zhu RL, Amor B, Girvin AT, Manna A, Qureshi N, Kurilla MG, Michael SG, Portilla LM, Rutter JL, Austin CP, Gersing KR; N3C Consortium (2021) The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment. J Am Med Inform Assoc 28(3):427-443. PubMed
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 (2021) Cyclooxygenase inhibitor use is associated with increased COVID-19 severity. medRxiv [Preprint] PubMed
Rando HM, Bennett TD, Byrd JB, Bramante C, Callahan TJ, Chute CG, Davis HE, Deer R, Gagnier J, Koraishy FM, Liu F, McMurry JA, Moffitt RA, Pfaff ER, Reese JT, Relevo R, Robinson PN, Saltz JH, Solomonides A, Sule A, Topaloglu U, Haendel MA (2021) Challenges in defining Long COVID: Striking differences across literature, Electronic Health Records, and patient-reported information. medRxiv [Preprint] PubMed
Luo L, Yan S, Lai PT, Veltri D, Oler A, Xirasagar S, Ghosh R, Similuk M, Robinson PN, Lu Z (2021) PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology. Bioinformatics Epub ahead of print. PubMed
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. The Human Phenotype Ontology in 2021. Nucleic Acids Res 49(D1):D1207-D1217. PubMed
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 (2021) KG- COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response. Patterns (N Y) 2(1):100155. PubMed
2020
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, Della Rocca M, 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 (2020) The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Res 48(D1):D704-D715. PubMed
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 (2020) Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project. Nat Rev Nephrol 16(11):686-696. PubMed
Robinson PN, Haendel MA (2020) Ontologies, Knowledge Representation, and Machine Learning for Translational Research: Recent Contributions. Yearb Med Inform 29(1):159-162. PubMed
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 (2020) Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. Am J Hum Genet 107(3):403-417. PubMed
Karlebach G, Hansen P, Veiga DF, Steinhaus R, Danis D, Li S, Anczukow O, Robinson PN (2020) HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis. Genome Biol 21(1):171. PubMed
Petrini A, Mesiti M, Schubach M, Frasca M, Danis D, Re M, Grossi G, Cappelletti L, Castrignanò T, Robinson PN, Valentini G (2020) parSMURF, a high- performance computing tool for the genome-wide detection of pathogenic variants. Gigascience 9(5):giaa052. PubMed
Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID) (2020) 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 8(5):1778. PubMed
Chang WH, Mashouri P, Lozano AX, Johnstone B, Husić M, Olry A, Maiella S, Balci TB, Sawyer SL, Robinson PN, Rath A, Brudno M (2020) Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes. Genet Med 22(8):1391-1400. PubMed
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 (2020) An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes (Basel) 11(4):460. PubMed
Steinhaus R, Gonzalez T, Seelow D, Robinson PN. Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers. Nucleic Acids Res 48(10):5306-5317. PubMed
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 (2020) How many rare diseases are there? Nat Rev Drug Discov 19(2):77-78. PubMed
Carmody LC, Blau H, Danis D, Zhang XA, Gourdine JP, Vasilevsky N, Krawitz P, Thompson MD, Robinson PN (2020) Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. Orphanet J Rare Dis 15(1):40. PubMed
2019
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 20(23):6059. PubMed
Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahlén T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A (2019) Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Nat Commun 10(1):5508. PubMed
Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, Köhler S, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, Robinson PN, Haendel MA (2019) Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. Database (Oxford) 2019:baz114. PubMed
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 (2019) Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. Curr Protoc Hum Genet 103(1):e92. PubMed
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, Moslerová 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 (2019) Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10:611. PubMed
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). 10(7):548. PubMed
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, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM (2019) PEDIA: prioritization of exome data by image analysis. Genet Med 21(12):2807-2814. PubMed
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 (2019)Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. NPJ Digit Med. 2:32. PubMed
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 (2019) Clinical Data: Sources and Types, Regulatory Constraints, Applications. Clin Transl Sci. 2019 Jul12(4):329-333. PubMed
Bhushan R, Altinbas L, Jäger M, Zaradzki M, Lehmann D, Timmermann B, Clayton NP, Zhu Y, Kallenbach K, Kararigas G, Robinson PN (2019) An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology. J Cell Mol Med 2019 Apr23(4):2526-2535. PubMed
Hansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, Robinson PN (2019) GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution. BMC Genomics 20(1):40. PubMed
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A,Robinson PN, Dollfus H; ERN-EYE Ontology Study Group (2019) An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis 14(1):8. PubMed
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 (2019) Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res
2018
Haendel MA, Chute CG, Robinson PN (2018) Classification, Ontology, and Precision Medicine. N Engl J Med 379:1452-1462. PubMed
Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE (2018) Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 113:29-40. PubMed
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 (2019) Plain-language medical vocabulary for precision diagnosis. Nat Genet 50:474-476. PubMed
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 (2018) Harmonising phenomics information for a better interoperability in the rare disease field. Eur J Med Genet pii: S1769-7212(17)30506-2. PubMed
Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM (2018) Evaluation of exome filtering techniques for the analysis of clinically relevant genes. Hum Mutat 39:197-201. PubMed
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 (2018) Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med 10:3. PubMed
2017
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 (2017) AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome. Mol Ther Nucleic Acids 9:69-79. PubMed
Notaro M, Schubach M, Robinson PN, Valentini G (2017) Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods. BMC Bioinformatics 18:449. PubMed
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 (2017) Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv Exp Med Biol 1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review. PubMed PMID: . PubMed
Gehle P, Goergen B, Pilger D, Ruokonen P, Robinson PN, Salchow DJ (2017) Biometric and structural ocular manifestations of Marfan syndrome. PLoS One 12:e0183370. PubMed
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 (2017) Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet 101:206-217. PubMed
Schubach M, Re M, Robinson PN, Valentini G (2017) Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants. Sci Rep 7(1):2959. PubMed
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 (2017) Defining Disease, Diagnosis, and
Translational Medicine within a Homeostatic Perturbation Paradigm: The National
Institutes of Health Undiagnosed Diseases Program Experience. Front Med
(Lausanne)
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 (2017). International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 100(5):695-705. PubMed
Robinson PN (2017). Once doesn't count: Phenotype-driven gene hunting in cohorts. Hum Mutat. 38(5):469. PubMed
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 (2017). Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 169(1):6-12. PubMed
Köhler S, Robinson PN (2017). [Diagnostics in human genetics : Integration of phenotypic and genomic data]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 60(5):542-549. PubMed
Girdauskas E, Robinson PN, von Kodolitsch Y (2017). Interpreting Phenotypic Features of Bicuspid Aortic Valve Disease: From Simplification to Complexity to Simplicity? Am J Med. PubMed
Jerković I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González Navarrete I, Robinson PN, Hecht J, Mundlos S (2017). Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genet. 13(1):e1006567. PubMed
Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel
T. (2017) L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes. Nucleic Acids Res. 45(D1):D68-D73
PubMed
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 (2017) The Monarch
Initiative: an integrative data and analytic platform connecting phenotypes to
genotypes across species. Nucleic Acids Res. 45(D1):D712-D722
PubMed
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 (2017) The Human Phenotype Ontology in 2017. Nucleic Acids Res. 45(D1):D865-D876.
PubMed
2016
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 (2016) Int J Cardiol Heart Vasc. Heinrich V, Kamphans T, Mundlos S, Robinson PN, Krawitz PM (2016) A likelihood
ratio-based method to predict exact pedigrees for complex families from
next-generation sequencing data. Bioinformatics 33:72-78
PubMed
Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN (2016)
Alternate-locus aware variant calling in whole genome sequencing. Genome Med 8:130
PubMed
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 (2016) An expanded evaluation of protein
function prediction methods shows an improvement in accuracy. Genome Biol 17:184
PubMed
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 (2016) The digital revolution
in phenotyping. Brief Bioinform 17:819-30.
PubMed
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 (2016) Rare Noncoding Mutations
Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with
Mental Retardation Syndrome. Hum Mutat 37:737-44
PubMed
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 (2016) Computational evaluation of exome
sequence data using human and model organism phenotypes improves diagnostic
efficiency. Genet Med 18:608-17
PubMed
Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D (2016) A systematic,
large-scale comparison of transcription factor binding site models. BMC Genomics 17:388
PubMed
Hansen P, Hecht J, Ibn-Salem J, Menkuec BS, Roskosch S, Truss M, Robinson PN (2016)
Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus. BMC Genomics 17:873
PubMed
Seppelt PC, Schwill S, Weymann A, Arif R, Weber A, Zaradzki M, Richter K,
Ensminger S, Robinson PN, Wagner AH, Karck M, Kallenbach K (2016) Loss of Endothelial
Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral
Gene Therapy. PLoS One 11:e0148012
PubMed
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 (2016) Whole-Genome Analysis Framework for
Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Am J Hum Genet 99:595-606.
PubMed
Lloyd KC, Robinson PN, MacRae CA (2016) Animal-based studies will be essential for
precision medicine. Sci Transl Med 8:352ed12
PubMed
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 (2016) Navigating the Phenotype
Frontier: The Monarch Initiative.Genetics 203:1491-5
PubMed
Passarge E, Robinson PN, Graul-Neumann LM (2016) Marfanoid-progeroid-lipodystrophy
syndrome: a newly recognized fibrillinopathy.Eur J Hum Genet 24:1244-7
PubMed
2015
Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. (2015). Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature Protocols 10:2004-15.
PubMed
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. (2015). Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine 18:608-17.
PubMed
Brookes AJ, Robinson PN (2015). Human genotype-phenotype databases: aims, challenges and opportunities. Nature Reviews Genetics 16:702-15.
PubMed
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 (2015). Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics., .
PubMed
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 (2015) Repository of mutations from
Oman: The entry point to a national mutation database. F1000Res 4:891.
PubMed
Hansen P, Hecht J, Ibrahim DM, Krannich A, Truss M, Robinson PN (2015) Saturation analysis of ChIP-seq data for reproducible identification of binding peaks. Genome Res 25:1391-400. PubMed
Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN (2015). The Genomic Birthday Paradox: How Much Is Enough? Human Mutation, .
PubMed
Yang H, Robinson PN, Wang K. (2015). Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
Nature Methods 12:841-3.
PubMed
Groza, T., Köhler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L. M., Kibbe, W. A., Schofield, P. N., Beck, T., et al. (2015). The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. The American Journal of Human Genetics 97:111-24.
PubMed
Flottmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, and Spielmann M (2015). 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 58:376-80.
PubMed
Haendel, M. A., Vasilevsky, N., Brush, M., Hochheiser, H. S., Jacobsen, J., Oellrich, A., Mungall, C. J., Washington, N., Kohler, S., Lewis, S. E., ,Robinson PN, Smedley D (2015).
Disease insights through cross-species phenotype comparisons. Mamm. Genome 26:548-55.
PubMed
Hehir-Kwa, J. Y., Claustres, M., Hastings, R. J., Ravenswaaij-Arts, C. van, Christenhusz, G., Genuardi, M., Melegh, B., Cambon-Thomsen, A., Patsalis, P., Vermeesch, J., et al. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur. J. Hum. Genet. 23:1601-6.
PubMed
Kuchenbecker L, Nienen M, Hecht J, Neumann AU, Babel, N, Reinert, K., and Robinson PN (2015). IMSEQ - a fast and error aware approach to immunogenetic sequence analysis. Bioinformatics 31:2963-71.
PubMed
Robinson, P. N., Marco, F., Kohler, S., Notaro, M., Re, M., and Valentini, G. (2015). “A hierarchical ensemble method for DAG-structured taxonomies,” in Workshop on Multiple Classifier Systems (MCS 2015) Lecture Notes in Computer Science. (Springer International Publishing).
PubMed
Valentini, G., Kohler, S., Re, M., Notaro, M., and Robinson, P. N. (2015). “‘Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology,’” in Bioinformatics and Biomedical Engineering Lecture Notes in Computer Science., eds. F. Ortuño and I. Rojas (Springer International Publishing), 66–77.
PubMed
Forler, S., Klein, O., Kohler, S., Robinson, P. N., Witt, H., Sultan, M., Eravci, M., Regitz-Zagrosek, V., Lehrach, H., and Klose, J. (2015). Investigation of heart proteome of different consomic mouse strains. Testing the effect of polymorphisms on the proteome-wide trans-variation of proteins. EuPA Open Proteomics 7, 27–42.
PubMed
Westbury, S. K., Turro, E., Greene, D., Lentaigne, C., Kelly, A. M., Bariana, T. K., Simeoni, I., Pillois, X., Attwood, A., Austin, S., et al. (2015). Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Med 7, 36.
PubMed
Groza, T., Tudorache, T., Robinson, P. N., and Zankl, A. (2015). Capturing domain knowledge from multiple sources: the rare bone disorders use case. J Biomed Semantics 6, 21.
PubMed
Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., et al. (2015). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur. J. Hum. Genet. 23, 720.
PubMed
Groza, T., Kohler, S., Doelken, S., Collier, N., Oellrich, A., Smedley, D., Couto, F. M., Baynam, G., Zankl, A., and Robinson, P. N. (2015). Automatic concept recognition using the human phenotype ontology reference and test suite corpora. Database (Oxford) 2015, .
PubMed
Deans, A. R., Lewis, S. E., Huala, E., Anzaldo, S. S., Ashburner, M., Balhoff, J. P., Blackburn, D. C., Blake, J. A., Burleigh, J. G., Chanet, B., et al. (2015). Finding our way through phenotypes. PLoS Biol. 13, e1002033.
PubMed
Kagawa, T., Oka, A., Kobayashi, Y., Hiasa, Y., Kitamura, T., Sakugawa, H., Adachi, Y., Anzai, K., Tsuruya, K., Arase, Y., et al. (2015). Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum. Mutat. 36, 327–332.
PubMed
Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., et al. (2015). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur. J. Hum. Genet. 23, 633–638.
PubMed
Emmerich, D., Zemojtel, T., Hecht, J., Krawitz, P., Spielmann, M., Kuhnisch, J., Kobus, K., Osswald, M., Heinrich, V., Berlien, P., et al. (2015). Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. Eur. J. Hum. Genet. 23, 870–873.
PubMed
Kodolitsch, Y. von, Blankart, C. R., Vogler, M., Kallenbach, K., and Robinson, P. N. (2015). [Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 58, 146–153.
PubMed
Grunhagen, J., Bhushan, R., Degenkolbe, E., Jager, M., Knaus, P., Mundlos, S., Robinson, P. N., and Ott, C. E. (2015). MiR-497 195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling. J. Bone Miner. Res. 30, 796–808.
PubMed
2014
Ibn-Salem, J., Kohler, S., Love, M. I., Chung, H. R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014). Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol. 15, 423.
PubMed
Krawitz, P. M., Schiska, D., Kruger, U., Appelt, S., Heinrich, V., Parkhomchuk, D., Timmermann, B., Millan, J. M., Robinson, P. N., Mundlos, S., et al. (2014). 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 2, 393–401.
PubMed
Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M. R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., and Robinson, P. N. (2014). 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. A 164A, 3170–3175.
PubMed
Mensah, M. A., Hestand, M. S., Larmuseau, M. H., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E. L., Van Houdt, J., Stoeva, R., Van Esch, H., et al. (2014). Pseudoautosomal region 1 length polymorphism in the human population. PLoS Genet. 10, e1004578.
PubMed
Robinson, P. N. (2014). Genomic data sharing for translational research and diagnostics. Genome Med 6, 78.
PubMed
Köhler, S., Schoeneberg, U., Czeschik, J. C., Doelken, S. C., Hehir-Kwa, J. Y., Ibn-Salem, J., Mungall, C. J., Smedley, D., Haendel, M. A., and Robinson, P. N. (2014). Clinical interpretation of CNVs with cross-species phenotype data. J. Med. Genet. 51:766–772.
PubMed
Zemojtel, T., Kohler, S., Mackenroth, L., Jager, M., Hecht, J., Krawitz, P., Graul-Neumann, L., Doelken, S., Ehmke, N., Spielmann, M., et al. (2014). Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med 6:252ra123.
PubMed
Hillebrand, M., Millot, N., Sheikhzadeh, S., Rybczynski, M., Gerth, S., Kolbel, T., Keyser, B., Kutsche, K., Robinson, P. N., Berger, J., et al. (2014). Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes. Clin Cardiol 37, 672–679.
PubMed
Oellrich, A., Koehler, S., Washington, N., Mungall, C., Lewis, S., Haendel, M., Robinson, P. N., and Smedley, D. (2014). The influence of disease categories on gene candidate predictions from model organism phenotypes. J Biomed Semantics 5, S4.
PubMed
Smedley, D., Kohler, S., Czeschik, J. C., Amberger, J., Bocchini, C., Hamosh, A., Veldboer, J., Zemojtel, T., and Robinson, P. N. (2014). Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Bioinformatics 30, 3215–3222.
PubMed
Vanita, V., Guo, G., Singh, D., Ott, C. E., and Robinson, P. N. (2014). Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes. Mol. Cell. Biochem. 396, 137–145.
PubMed
Masino, A. J., Dechene, E. T., Dulik, M. C., Wilkens, A., Spinner, N. B., Krantz, I. D., Pennington, J. W., Robinson, P. N., and White, P. S. (2014). Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics 15, 248.
PubMed
Thompson, R., Johnston, L., Taruscio, D., Monaco, L., Beroud, C., Gut, I. G., Hansson, M. G., Hoen, P. B. ’t, Patrinos, G. P., Dawkins, H., et al. (2014). RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med 29 Suppl 3, S780–787.
PubMed
Sheikhzadeh, S., De Backer, J., Gorgan, N. R., Rybczynski, M., Hillebrand, M., Schuler, H., Bernhardt, A. M., Koschyk, D., Bannas, P., Keyser, B., et al. (2014). 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 9, 203.
PubMed
Jamsheer, A., Smigiel, R., Jakubiak, A., Zemojtel, T., Socha, M., Robinson, P. N., and Mundlos, S. (2014). Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Res. Part A Clin. Mol. Teratol. 100, 314–318.
PubMed
Robinson, P. N., and Webber, C. (2014). Phenotype ontologies and cross-species analysis for translational research. PLoS Genet. 10, e1004268.
PubMed
Jager, M., Wang, K., Bauer, S., Smedley, D., Krawitz, P., and Robinson, P. N. (2014). Jannovar: a java library for exome annotation. Hum. Mutat. 35, 548–555.
PubMed
Dharmadasa, A., Bailes, I., Gough, K., Ebrahimi, N., Robinson, P. N., and Lucas, D. N. (2014). An audit of the efficacy of a structured handover tool in obstetric anaesthesia. Int J Obstet Anesth 23, 151–156.
PubMed
Jacquinet, A., Verloes, A., Callewaert, B., Coremans, C., Coucke, P., Paepe, A. de, Kornak, U., Lebrun, F., Lombet, J., Pierard, G. E., et al. (2014). Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3’ end of FBN1 gene. Eur J Med Genet 57, 230–234.
PubMed
Howard, M. F., Murakami, Y., Pagnamenta, A. T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D. A., Knight, S. J., Kolsch, U., Kruger, U., et al. (2014). Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am. J. Hum. Genet. 94, 278–287.
PubMed
Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C. R., Brockstaedt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P. N., et al. (2014). Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation. Clin. Genet. 86, 238–245.
PubMed
Horn, D., Wieczorek, D., Metcalfe, K., Bari?, I., Pale?ac, L., Cuk, M., Petkovi? Ramad?a, D., Kruger, U., Demuth, S., Heinritz, W., et al. (2014). Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur. J. Hum. Genet. 22, 762–767.
PubMed
Robinson, P. N., Kohler, S., Oellrich, A., Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., Krawitz, P., et al. (2014). Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res. 24, 340–348.
PubMed
Kohler, S., Doelken, S. C., Mungall, C. J., Bauer, S., Firth, H. V., Bailleul-Forestier, I., Black, G. C., Brown, D. L., Brudno, M., Campbell, J., et al. (2014). The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42, D966–974.
PubMed
2013
Guo, G., Munoz-Garcia, B., Ott, C. E., Grunhagen, J., Mousa, S. A., Pletschacher, A., Kodolitsch, Y. von, Knaus, P., and Robinson, P. N. (2013). Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. Hum. Mol. Genet. 22, 433–443.
PubMed
Aydin, A., Adsay, B. A., Sheikhzadeh, S., Keyser, B., Rybczynski, M., Sondermann, C., Detter, C., Steven, D., Robinson, P. N., Berger, J., et al. (2013). Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. PLoS ONE 8, e81281.
PubMed
Dziubianau, M., Hecht, J., Kuchenbecker, L., Sattler, A., Stervbo, U., Rodelsperger, C., Nickel, P., Neumann, A. U., Robinson, P. N., Mundlos, S., et al. (2013). TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology. Am. J. Transplant. 13, 2842–2854.
PubMed
Ibrahim, D. M., Hansen, P., Rodelsperger, C., Stiege, A. C., Doelken, S. C., Horn, D., Jager, M., Janetzki, C., Krawitz, P., Leschik, G., et al. (2013). Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. Genome Res. 23, 2091–2102.
PubMed
Kohler, S., Doelken, S. C., Ruef, B. J., Bauer, S., Washington, N., Westerfield, M., Gkoutos, G., Schofield, P., Smedley, D., Lewis, S. E., et al. (2013). Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000Res 2, 30.
PubMed
Kamphans, T., Sabri, P., Zhu, N., Heinrich, V., Mundlos, S., Robinson, P. N., Parkhomchuk, D., and Krawitz, P. M. (2013). Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS ONE 8, e70151.
PubMed
Grosjean, J., Merabti, T., Soualmia, L. F., Letord, C., Charlet, J., Robinson, P. N., and Darmoni, S. J. (2013). Integrating the human phenotype ontology into HeTOP terminology-ontology server. Stud Health Technol Inform 192, 961.
PubMed
Heinrich, V., Kamphans, T., Stange, J., Parkhomchuk, D., Hecht, J., Dickhaus, T., Robinson, P. N., and Krawitz, P. M. (2013). Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Med 5, 69.
PubMed
Guo, G., Rodelsperger, C., Digweed, M., and Robinson, P. N. (2013). Regulation of fibrillin-1 gene expression by Sp1. Gene 527, 448–455.
PubMed
Krawitz, P. M., Hochsmann, B., Murakami, Y., Teubner, B., Kruger, U., Klopocki, E., Neitzel, H., Hoellein, A., Schneider, C., Parkhomchuk, D., et al. (2013). A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood 122, 1312–1315.
PubMed
Krawitz, P. M., Murakami, Y., Riess, A., Hietala, M., Kruger, U., Zhu, N., Kinoshita, T., Mundlos, S., Hecht, J., Robinson, P. N., et al. (2013). PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am. J. Hum. Genet. 92, 584–589.
PubMed
Roncarati, R., Viviani Anselmi, C., Krawitz, P., Lattanzi, G., Kodolitsch, Y. von, Perrot, A., Pasquale, E. di, Papa, L., Portararo, P., Columbaro, M., et al. (2013). Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur. J. Hum. Genet. 21, 1105–1111.
PubMed
Kotlarz, D., Zietara, N., Uzel, G., Weidemann, T., Braun, C. J., Diestelhorst, J., Krawitz, P. M., Robinson, P. N., Hecht, J., Pucha?ka, J., et al. (2013). Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J. Exp. Med. 210, 433–443.
PubMed
Oetting, W. S., Robinson, P. N., Greenblatt, M. S., Cotton, R. G., Beck, T., Carey, J. C., Doelken, S. C., Girdea, M., Groza, T., Hamilton, C. M., et al. (2013). Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum. Mutat. 34, 661–666.
PubMed
Schwill, S., Seppelt, P., Grunhagen, J., Ott, C. E., Jugold, M., Ruhparwar, A., Robinson, P. N., Karck, M., and Kallenbach, K. (2013). The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta. J. Vasc. Surg. 57, 1628–1636.
PubMed
Bhushan, R., Grunhagen, J., Becker, J., Robinson, P. N., Ott, C. E., and Knaus, P. (2013). miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules. Int. J. Biochem. Cell Biol. 45, 696–705.
PubMed
Kuhne, K., Keyser, B., Groene, E. F., Sheikhzadeh, S., Detter, C., Lorenzen, V., Hillebrand, M., Bernhardt, A. M., Hoffmann, B., Mir, T. S., et al. (2013). FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. Int. J. Cardiol. 168, 953–959.
PubMed
Doelken, S. C., Kohler, S., Mungall, C. J., Gkoutos, G. V., Ruef, B. J., Smith, C., Smedley, D., Bauer, S., Klopocki, E., Schofield, P. N., et al. (2013). 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 6, 358–372.
PubMed
Aydin, A., Desai, N., Bernhardt, A. M., Treede, H., Detter, C., Sheikhzadeh, S., Rybczynski, M., Hillebrand, M., Lorenzen, V., Mortensen, K., et al. (2013). Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. Int. J. Cardiol. 164, 301–305.
PubMed
Robinson, P. N. (2013). A systematic large-scale phenotypic analysis of de novo and inherited copy number variation. Hum. Mutat. 34, v.
PubMed
2012
Taboada, M., Alvarez, V., Martinez, D., Pilo, B., Robinson, P. N., and Sobrido, M. J. (2012). Summarizing phenotype evolution patterns from report cases. J Med Syst 36 Suppl 1, 25–36.
PubMed
Saini, S., Robinson, P. N., Singh, J. R., and Vanita, V. (2012). A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family. Exp. Eye Res. 104, 82–88.
PubMed
Spielmann, M., Brancati, F., Krawitz, P. M., Robinson, P. N., Ibrahim, D. M., Franke, M., Hecht, J., Lohan, S., Dathe, K., Nardone, A. M., et al. (2012). Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am. J. Hum. Genet. 91, 629–635.
PubMed
Ghani-Kakhki, M., Robinson, P. N., Morlot, S., Mitter, D., Trimborn, M., Albrecht, B., Varon, R., Sperling, K., and Neitzel, H. (2012). 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 3, 6–13.
PubMed
Taboada, M., Martinez, D., Pilo, B., Jimenez-Escrig, A., Robinson, P. N., and Sobrido, M. J. (2012). Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. BMC Med Inform Decis Mak 12, 78.
PubMed
Bauer, S., Kohler, S., Schulz, M. H., and Robinson, P. N. (2012). Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics 28, 2502–2508.
PubMed
Kilic, E., Alanay, Y., Utine, E., Ozgen-Mocan, B., Robinson, P. N., and Boduro?lu, K. (2012). 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. 54, 198–202.
PubMed
Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., et al. (2012). Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am. J. Hum. Genet. 91, 146–151.
PubMed
Kohler, S., Doelken, S. C., Rath, A., Ayme, S., and Robinson, P. N. (2012). Ontological phenotype standards for neurogenetics. Hum. Mutat. 33, 1333–1339.
PubMed
Robinson, P. N. (2012). Deep phenotyping for precision medicine. Hum. Mutat. 33, 777–780.
PubMed
Shaikh, A., and Robinson, P. N. (2012). An ADEPT apology. Anaesthesia 67, 432–433.
PubMed
Chen, C. K., Mungall, C. J., Gkoutos, G. V., Doelken, S. C., Kohler, S., Ruef, B. J., Smith, C., Westerfield, M., Robinson, P. N., Lewis, S. E., et al. (2012). MouseFinder: Candidate disease genes from mouse phenotype data. Hum. Mutat. 33, 858–866.
PubMed
Thompson, M. D., Roscioli, T., Marcelis, C., Nezarati, M. M., Stolte-Dijkstra, I., Sharom, F. J., Lu, P., Phillips, J. A., Sweeney, E., Robinson, P. N., et al. (2012). Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am. J. Med. Genet. A 158A, 553–558.
PubMed
Sheikhzadeh, S., Kusch, M. L., Rybczynski, M., Kade, C., Keyser, B., Bernhardt, A. M., Hillebrand, M., Mir, T. S., Fuisting, B., Robinson, P. N., et al. (2012). A simple clinical model to estimate the probability of Marfan syndrome. QJM 105, 527–535.
PubMed
Faivre, L., Collod-Beroud, G., Ades, L., Arbustini, E., Child, A., Callewaert, B. L., Loeys, B., Binquet, C., Gautier, E., Mayer, K., et al. (2012). The new Ghent criteria for Marfan syndrome: what do they change? Clin. Genet. 81, 433–442.
PubMed
Jackson, G. N., Robinson, P. N., Lucas, D. N., Natarajan, A., Gough, K., Woolnough, M., and Yentis, S. M. (2012). What mothers know, and want to know, about the complications of general anaesthesia. Acta Anaesthesiol Scand 56, 585–588.
PubMed
Murakami, Y., Kanzawa, N., Saito, K., Krawitz, P. M., Mundlos, S., Robinson, P. N., Karadimitris, A., Maeda, Y., and Kinoshita, T. (2012). Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J. Biol. Chem. 287, 6318–6325.
PubMed
Lucas, D. N., Robinson, P. N., and Nel, M. R. (2012). Sepsis in obstetrics and the role of the anaesthetist. Int J Obstet Anesth 21, 56–67.
PubMed
Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Kruger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., and Krawitz, P. M. (2012). The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res. 40, 2426–2431.
PubMed
Carmignac, V., Thevenon, J., Ades, L., Callewaert, B., Julia, S., Thauvin-Robinet, C., Gueneau, L., Courcet, J. B., Lopez, E., Holman, K., et al. (2012). In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am. J. Hum. Genet. 91, 950–957.
PubMed
Sheikhzadeh, S., Kade, C., Keyser, B., Stuhrmann, M., Arslan-Kirchner, M., Rybczynski, M., Bernhardt, A. M., Habermann, C. R., Hillebrand, M., Mir, T., et al. (2012). Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome. Clin. Genet. 82, 240–247.
PubMed
2011
Kohler, S., Bauer, S., Mungall, C. J., Carletti, G., Smith, C. L., Schofield, P., Gkoutos, G. V., and Robinson, P. N. (2011). Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 12, 418.
PubMed
Schulz, M. H., Kohler, S., Bauer, S., and Robinson, P. N. (2011). Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 12, 441.
PubMed
Guo, G., Gehle, P., Doelken, S., Martin-Ventura, J. L., Kodolitsch, Y. von, Hetzer, R., and Robinson, P. N. (2011). Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS ONE 6, e20138.
PubMed
Haworth, A., Bertram, L., Carrera, P., Elson, J. L., Braastad, C. D., Cox, D. W., Cruts, M., Dunnen, J. T. den, Farrer, M. J., Fink, J. K., et al. (2011). Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12, 169–173.
PubMed
Huang, J., Mirel, D., Pugh, E., Xing, C., Robinson, P. N., Pertsemlidis, A., Ding, L., Kozlitina, J., Maher, J., Rios, J., et al. (2011). Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 5, 224–229.
PubMed
Robinson, P. N., Krawitz, P., and Mundlos, S. (2011). Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin. Genet. 80, 127–132.
PubMed
Horn, D., and Robinson, P. N. (2011). Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am. J. Med. Genet. A 155A, 721–724.
PubMed
Bauer, S., Robinson, P. N., and Gagneur, J. (2011). Model-based gene set analysis for Bioconductor. Bioinformatics 27, 1882–1883.
PubMed
Lindblom, A., and Robinson, P. N. (2011). Bioinformatics for human genetics: promises and challenges. Hum. Mutat. 32, 495–500.
PubMed
Kossler, N., Stricker, S., Rodelsperger, C., Robinson, P. N., Kim, J., Dietrich, C., Osswald, M., Kuhnisch, J., Stevenson, D. A., Braun, T., et al. (2011). Neurofibromin (Nf1) is required for skeletal muscle development. Hum. Mol. Genet. 20, 2697–2709.
PubMed
Jager, M., Ott, C. E., Grunhagen, J., Hecht, J., Schell, H., Mundlos, S., Duda, G. N., Robinson, P. N., and Lienau, J. (2011). Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 12, 158.
PubMed
Ott, C. E., Grunhagen, J., Jager, M., Horbelt, D., Schwill, S., Kallenbach, K., Guo, G., Manke, T., Knaus, P., Mundlos, S., et al. (2011). MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3’ UTR and coding-sequence binding sites. PLoS ONE 6, e16250.
PubMed
Aydin, A., Mortensen, K., Rybczynski, M., Sheikhzadeh, S., Willmann, S., Bernhardt, A. M., Hillebrand, M., Stritzke, J., Baulmann, J., Schunkert, H., et al. (2011). Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int. J. Cardiol. 147, 466–468.
PubMed
Rödelsperger, C., Krawitz, P., Bauer, S., Hecht, J., Bigham, A. W., Bamshad, M., Condor, B. J. de, Schweiger, M. R., and Robinson, P. N. (2011). Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27, 829–836.
PubMed
Rybczynski, M., Treede, H., Sheikhzadeh, S., Groene, E. F., Bernhardt, A. M., Hillebrand, M., Mir, T. S., Kuhne, K., Koschyk, D., Robinson, P. N., et al. (2011). Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am. J. Cardiol. 107, 268–274.
PubMed
Horn, D., Krawitz, P., Mannhardt, A., Korenke, G. C., and Meinecke, P. (2011). Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am. J. Med. Genet. A 155A, 1917–1922.
PubMed
Sheikhzadeh, S., Rybczynski, M., Habermann, C. R., Bernhardt, A. M., Arslan-Kirchner, M., Keyser, B., Kaemmerer, H., Mir, T. S., Staebler, A., Oezdal, N., et al. (2011). Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin. Genet. 79, 568–574.
PubMed
Rodelsperger, C., Guo, G., Kolanczyk, M., Pletschacher, A., Kohler, S., Bauer, S., Schulz, M. H., and Robinson, P. N. (2011). Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res. 39, 2492–2502.
PubMed
2010
Graul-Neumann, L. M., Kienitz, T., Robinson, P. N., Baasanjav, S., Karow, B., Gillessen-Kaesbach, G., Fahsold, R., Schmidt, H., Hoffmann, K., and Passarge, E. (2010). 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 152A, 2749–2755.
PubMed
Rybczynski, M., Mir, T. S., Sheikhzadeh, S., Bernhardt, A. M., Schad, C., Treede, H., Veldhoen, S., Groene, E. F., Kuhne, K., Koschyk, D., et al. (2010). Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am. J. Cardiol. 106, 1048–1053.
PubMed
Krawitz, P. M., Schweiger, M. R., Rodelsperger, C., Marcelis, C., Kolsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., et al. (2010). Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat. Genet. 42:827–829.
PubMed
Detaint, D., Faivre, L., Collod-Beroud, G., Child, A. H., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., et al. (2010). Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur. Heart J. 31, 2223–2229.
PubMed
Horbelt, D., Guo, G., Robinson, P. N., and Knaus, P. (2010). Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. J. Cell. Sci. 123, 4340–4350.
PubMed
Rybczynski, M., Koschyk, D., Karmeier, A., Gessler, N., Sheikhzadeh, S., Bernhardt, A. M., Habermann, C. R., Treede, H., Berger, J., Robinson, P. N., et al. (2010). Frequency of sleep apnea in adults with the Marfan syndrome. Am. J. Cardiol. 105, 1836–1841.
PubMed
Robinson, P. N., and Mundlos, S. (2010). The human phenotype ontology. Clin. Genet. 77, 525–534.
PubMed
Mortensen, K., Baulmann, J., Rybczynski, M., Sheikhzadeh, S., Aydin, M. A., Treede, H., Dombrowski, E., Kuhne, K., Peitsmeier, P., Habermann, C. R., et al. (2010). Augmentation index and the evolution of aortic disease in marfan-like syndromes. Am. J. Hypertens. 23, 716–724.
PubMed
Rao, K., Lucas, D. N., and Robinson, P. N. (2010). Surgical safety checklists in obstetrics. Int J Obstet Anesth 19, 235–236.
PubMed
Kodolitsch, Y. von, Rybczynski, M., Bernhardt, A., Mir, T. S., Treede, H., Dodge-Khatami, A., Robinson, P. N., Sheikhzadeh, S., Reichenspurner, H., and Meinertz, T. (2010). Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? VASA 39, 17–32.
PubMed
Bauer, S., Gagneur, J., and Robinson, P. N. (2010). GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Res. 38, 3523–3532.
PubMed
Robinson, P. N. (2010). Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biol. 11, 144.
PubMed
Krawitz, P., Rodelsperger, C., Jager, M., Jostins, L., Bauer, S., and Robinson, P. N. (2010). Microindel detection in short-read sequence data. Bioinformatics 26, 722–729.
PubMed
2009
Faivre, L., Masurel-Paulet, A., Collod-Beroud, G., Callewaert, B. L., Child, A. H., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., et al. (2009). 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 123, 391–398.
PubMed
Kohler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dolken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., and Robinson, P. N. (2009). Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 85, 457–464.
PubMed
Rodelsperger, C., Kohler, S., Schulz, M. H., Manke, T., Bauer, S., and Robinson, P. N. (2009). Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 94, 308–316.
PubMed
Mortensen, K., Aydin, M. A., Rybczynski, M., Baulmann, J., Schahidi, N. A., Kean, G., Kuhne, K., Bernhardt, A. M., Franzen, O., Mir, T., et al. (2009). Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am. J. Hypertens. 22, 971–979.
PubMed
Wise-Faberowski, L., Robinson, P. N., Rich, S., and Warner, D. S. (2009). Oxygen and glucose deprivation in an organotypic hippocampal slice model of the developing rat brain: the effects on N-methyl-D-aspartate subunit composition. Anesth. Analg. 109, 205–210.
PubMed
Turkmen, S., Guo, G., Garshasbi, M., Hoffmann, K., Alshalah, A. J., Mischung, C., Kuss, A., Humphrey, N., Mundlos, S., and Robinson, P. N. (2009). CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 5, e1000487.
PubMed
Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., et al. (2009). 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 149A, 854–860.
PubMed
Bieler, F. H., Ott, C. E., Thompson, M. S., Seidel, R., Ahrens, S., Epari, D. R., Wilkening, U., Schaser, K. D., Mundlos, S., and Duda, G. N. (2009). Biaxial cell stimulation: A mechanical validation. J Biomech 42, 1692–1696.
PubMed
Gkoutos, G. V., Mungall, C., Dolken, S., Ashburner, M., Lewis, S., Hancock, J., Schofield, P., Kohler, S., and Robinson, P. N. (2009). Entity/quality-based logical definitions for the human skeletal phenome using PATO. Conf Proc IEEE Eng Med Biol Soc 2009, 7069–7072.
PubMed
Ott, C. E., Bauer, S., Manke, T., Ahrens, S., Rodelsperger, C., Grunhagen, J., Kornak, U., Duda, G., Mundlos, S., and Robinson, P. N. (2009). Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. J. Bone Miner. Res. 24, 1247–1262.
PubMed
Loughnan, B. A., and Robinson, P. N. (2009). Ethnicity and late booking in an urban obstetric population. Public Health 123, 723–724.
PubMed
Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Binquet, C., Gautier, E., Loeys, B. L., Arbustini, E., Mayer, K., Arslan-Kirchner, M., et al. (2009). Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur. J. Hum. Genet. 17, 491–501.
PubMed
2008
Robinson, P. N., Kohler, S., Bauer, S., Seelow, D., Horn, D., and Mundlos, S. (2008). The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610–615.
PubMed
Rybczynski, M., Bernhardt, A. M., Rehder, U., Fuisting, B., Meiss, L., Voss, U., Habermann, C., Detter, C., Robinson, P. N., Arslan-Kirchner, M., et al. (2008). The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am. J. Med. Genet. A 146A, 3157–3166.
PubMed
Bauer, S., Grossmann, S., Vingron, M., and Robinson, P. N. (2008). Ontologizer 2.0–a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics 24, 1650–1651.
PubMed
Kohler, S., Bauer, S., Horn, D., and Robinson, P. N. (2008). Walking the interactome for prioritization of candidate disease genes. Am. J. Hum. Genet. 82, 949–958.
PubMed
Faivre, L., Collod-Beroud, G., Child, A., Callewaert, B., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., et al. (2008). Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J. Med. Genet. 45, 384–390.
PubMed
Blake, L. D., Lucas, D. N., Aziz, K., Castello-Cortes, A., and Robinson, P. N. (2008). Lithium toxicity and the parturient: case report and literature review. Int J Obstet Anesth 17, 164–169.
PubMed
Schulz, M. H., Bauer, S., and Robinson, P. N. (2008). The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int J Bioinform Res Appl 4, 81–95.
PubMed
Guo, G., Bauer, S., Hecht, J., Schulz, M. H., Busche, A., and Robinson, P. N. (2008). A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. Int. J. Biochem. Cell Biol. 40, 638–650.
PubMed
Kodolitsch, Y. von, Rybczynski, M., Detter, C., and Robinson, P. N. (2008). Diagnosis and management of Marfan syndrome. Future Cardiol 4, 85–96.
PubMed
2007
Vanita, V., Singh, J. R., Singh, D., Varon, R., Robinson, P. N., and Sperling, K. (2007). A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol. Vis. 13, 2035–2040.
PubMed
Grossmann, S., Bauer, S., Robinson, P. N., and Vingron, M. (2007). Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 23, 3024–3031.
PubMed
Faivre, L., Collod-Beroud, G., Loeys, B. L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., et al. (2007). 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. 81, 454–466.
PubMed
Kodolitsch, Y. von, and Robinson, P. N. (2007). Marfan syndrome: an update of genetics, medical and surgical management. Heart 93, 755–760.
PubMed
Rybczynski, M., Koschyk, D. H., Aydin, M. A., Robinson, P. N., Brinken, T., Franzen, O., Berger, J., Hofmann, T., Meinertz, T., and Kodolitsch, Y. von (2007). Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol 30, 19–24.
PubMed
Hecht, J., Seitz, V., Urban, M., Wagner, F., Robinson, P. N., Stiege, A., Dieterich, C., Kornak, U., Wilkening, U., Brieske, N., et al. (2007). Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model. Gene Expr. Patterns 7, 102–112.
PubMed
2006
Guo, G., Booms, P., Halushka, M., Dietz, H. C., Ney, A., Stricker, S., Hecht, J., Mundlos, S., and Robinson, P. N. (2006). Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation 114, 1855–1862.
PubMed
Hoffmann, K., Muller, J. S., Stricker, S., Megarbane, A., Rajab, A., Lindner, T. H., Cohen, M., Chouery, E., Adaimy, L., Ghanem, I., et al. (2006). Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet. 79, 303–312.
PubMed
Hecht, J., Kuhl, H., Haas, S. A., Bauer, S., Poustka, A. J., Lienau, J., Schell, H., Stiege, A. C., Seitz, V., Reinhardt, R., et al. (2006). Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics 7, 172.
PubMed
Ladewig, M. S., Robinson, P. N., Neumann, L. M., Holz, F. G., and Foerster, M. H. (2006). [Ocular manifestations and surgical results in patients with Marfan syndrome]. Ophthalmologe 103, 777–782.
PubMed
Beattie, B. J., and Robinson, P. N. (2006). Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancer. J. Comput. Biol. 13, 1114–1130.
PubMed
Wenzel, K., Carl, M., Perrot, A., Zabojszcza, J., Assadi, M., Ebeling, M., Geier, C., Robinson, P. N., Kress, W., Osterziel, K. J., et al. (2006). Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum. Mutat. 27, 599–600.
PubMed
Ney, A., Booms, P., Epple, G., Morgelin, M., Guo, G., Kettelgerdes, G., Gessner, R., and Robinson, P. N. (2006). Calcium-dependent self-association of the C-type lectin domain of versican. Int. J. Biochem. Cell Biol. 38, 23–29.
PubMed
Vanita, V., Singh, D., Robinson, P. N., Sperling, K., and Singh, J. R. (2006). 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 140, 558–566.
PubMed
Gille, C., and Robinson, P. N. (2006). HotSwap for bioinformatics: a STRAP tutorial. BMC Bioinformatics 7, 64.
PubMed
Booms, P., Ney, A., Barthel, F., Moroy, G., Counsell, D., Gille, C., Guo, G., Pregla, R., Mundlos, S., Alix, A. J., et al. (2006). A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. J. Mol. Cell. Cardiol. 40, 234–246.
PubMed
Robinson, P. N., Arteaga-Solis, E., Baldock, C., Collod-Beroud, G., Booms, P., De Paepe, A., Dietz, H. C., Guo, G., Handford, P. A., Judge, D. P., et al. (2006). The molecular genetics of Marfan syndrome and related disorders. J. Med. Genet. 43, 769–787.
PubMed
2005
Robinson, P. N., Neumann, L. M., Demuth, S., Enders, H., Jung, U., Konig, R., Mitulla, B., Muller, D., Muschke, P., Pfeiffer, L., et al. (2005). Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am. J. Med. Genet. A 135, 251–262.
PubMed
Booms, P., Pregla, R., Ney, A., Barthel, F., Reinhardt, D. P., Pletschacher, A., Mundlos, S., and Robinson, P. N. (2005). RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum. Genet. 116, 51–61.
PubMed
2004
Albrecht, A. N., Kornak, U., Boddrich, A., Suring, K., Robinson, P. N., Stiege, A. C., Lurz, R., Stricker, S., Wanker, E. E., and Mundlos, S. (2004). A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum. Mol. Genet. 13, 2351–2359.
PubMed
Robinson, P. N., Bohme, U., Lopez, R., Mundlos, S., and Nurnberg, P. (2004). Gene-Ontology analysis reveals association of tissue-specific 5’ CpG-island genes with development and embryogenesis. Hum. Mol. Genet. 13, 1969–1978.
PubMed
Robinson, P. N., Wollstein, A., Bohme, U., and Beattie, B. (2004). Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology. Bioinformatics 20, 979–981.
PubMed
2002
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