Publications

2017

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
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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
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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.
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2016

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
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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
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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
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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.
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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
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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
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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
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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
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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
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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.
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Lloyd KC, Robinson PN, MacRae CA (2016) Animal-based studies will be essential for precision medicine. Sci Transl Med 8:352ed12
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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
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Passarge E, Robinson PN, Graul-Neumann LM (2016) Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.Eur J Hum Genet 24:1244-7
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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.
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Brookes AJ, Robinson PN (2015). Human genotype-phenotype databases: aims, challenges and opportunities. Nature Reviews Genetics 16:702-15.
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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., .
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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.
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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.
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Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN (2015). The Genomic Birthday Paradox: How Much Is Enough? Human Mutation, .
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Yang H, Robinson PN, Wang K. (2015). Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nature Methods 12:841-3.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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, .
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Robinson, P. N. (2014). Genomic data sharing for translational research and diagnostics. Genome Med 6, 78.
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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.
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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-Î²1 is elevated in the entire spectrum of genetic aortic syndromes. Clin Cardiol 37, 672–679.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Robinson, P. N., and Webber, C. (2014). Phenotype ontologies and cross-species analysis for translational research. PLoS Genet. 10, e1004268.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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-Î² 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

Katzke, S., Booms, P., Tiecke, F., Palz, M., Pletschacher, A., Turkmen, S., Neumann, L. M., Pregla, R., Leitner, C., Schramm, C., et al. (2002). TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum. Mutat. 20, 197–208.
PubMed

Robinson, P. N., Booms, P., Katzke, S., Ladewig, M., Neumann, L., Palz, M., Pregla, R., Tiecke, F., and Rosenberg, T. (2002). Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum. Mutat. 20, 153–161.
PubMed

2001

Tiecke, F., Katzke, S., Booms, P., Robinson, P. N., Neumann, L., Godfrey, M., Mathews, K. R., Scheuner, M., Hinkel, G. K., Brenner, R. E., et al. (2001). Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur. J. Hum. Genet. 9, 13–21.
PubMed

Robinson, P. N., and Booms, P. (2001). The molecular pathogenesis of the Marfan syndrome. Cell. Mol. Life Sci. 58, 1698–1707.
PubMed

2000

Robinson, P. N., and Godfrey, M. (2000). The molecular genetics of Marfan syndrome and related microfibrillopathies. J. Med. Genet. 37, 9–25.
PubMed

Palz, M., Tiecke, F., Booms, P., Goldner, B., Rosenberg, T., Fuchs, J., Skovby, F., Schumacher, H., Kaufmann, U. C., Kodolitsch, Y. von, et al. (2000). 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. 91, 212–221.
PubMed

Booms, P., Tiecke, F., Rosenberg, T., Hagemeier, C., and Robinson, P. N. (2000). Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments. Hum. Genet. 107, 216–224.
PubMed

1990s

Booms, P., Cisler, J., Mathews, K. R., Godfrey, M., Tiecke, F., Kaufmann, U. C., Vetter, U., Hagemeier, C., and Robinson, P. N. (1999). Novel exon skipping mutation in the fibrillin-1 gene: two ’hot spots’ for the neonatal Marfan syndrome. Clin. Genet. 55, 110–117.
PubMed

Gille, C., Gille, A., Booms, P., Robinson, P. N., and Nurnberg, P. (1998). Bipolar clamping improves the sensitivity of mutation detection by temperature gradient gel electrophoresis. Electrophoresis 19, 1347–1350.
PubMed

Booms, P., Withers, A. P., Boxer, M., Kaufmann, U. C., Hagemeier, C., Vetter, U., and Robinson, P. N. (1997). 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. 100, 195–200.
PubMed