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All Publications
  1. 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, . Link
  2. 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, . Link
  3. Brookes AJ, Robinson PN (2015). Human genotype-phenotype databases: aims, challenges and opportunities. Nature Reviews Genetics, . Link
  4. 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., . Link
  5. Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN (2015). The Genomic Birthday Paradox: How Much Is Enough? Human Mutation, . Link
  6. Yang H, Robinson PN, Wang K. (2015). Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nature Methods, . Link
  7. Groza, T., Kohler, 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, . Link
  8. Flottmann, R., Knaus, A., Zemojtel, T., Robinson, P. N., 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, . Link
  9. Haendel, M. A., Vasilevsky, N., Brush, M., Hochheiser, H. S., Jacobsen, J., Oellrich, A., Mungall, C. J., Washington, N., Kohler, S., Lewis, S. E., et al. (2015). Disease insights through cross-species phenotype comparisons. Mamm. Genome, . Link
  10. 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., . Link
  11. Kuchenbecker, L., Nienen, M., Hecht, J., Neumann, A. U., Babel, N., Reinert, K., and Robinson, P. N. (2015). IMSEQ - a fast and error aware approach to immunogenetic sequence analysis. Bioinformatics, . Link
  12. 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). Link
  13. 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. Link
  14. 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. Link
  15. 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. Link
  16. 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. Link
  17. 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. Link
  18. 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, . Link
  19. 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. Link
  20. 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. Link
  21. 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. Link
  22. 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. Link
  23. 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. Link
  24. 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. Link
  25. 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. Link
  26. 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. Link
  27. 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. Link
  28. 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. Link
  29. Robinson, P. N. (2014). Genomic data sharing for translational research and diagnostics. Genome Med 6, 78. Link
  30. Kohler, 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. Link
  31. 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. Link
  32. 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. Link
  33. 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. Link
  34. 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. Link
  35. 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. Link
  36. 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. Link
  37. 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. Link
  38. 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. Link
  39. 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. Link
  40. Robinson, P. N., and Webber, C. (2014). Phenotype ontologies and cross-species analysis for translational research. PLoS Genet. 10, e1004268. Link
  41. 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. Link
  42. 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. Link
  43. 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. Link
  44. 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. Link
  45. 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. Link
  46. 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. Link
  47. 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. Link
  48. 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. Link
  49. 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. Link
  50. 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. Link
  51. 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. Link
  52. 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. Link
  53. 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. Link
  54. 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. Link
  55. 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. Link
  56. 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. Link
  57. Guo, G., Rodelsperger, C., Digweed, M., and Robinson, P. N. (2013). Regulation of fibrillin-1 gene expression by Sp1. Gene 527, 448–455. Link
  58. 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. Link
  59. 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. Link
  60. 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. Link
  61. 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. Link
  62. 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. Link
  63. 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. Link
  64. 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. Link
  65. 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. Link
  66. 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. Link
  67. 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. Link
  68. Robinson, P. N. (2013). A systematic large-scale phenotypic analysis of de novo and inherited copy number variation. Hum. Mutat. 34, v. Link
  69. 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. Link
  70. 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. Link
  71. 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. Link
  72. 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. Link
  73. 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. Link
  74. 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. Link
  75. 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. Link
  76. 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. Link
  77. Kohler, S., Doelken, S. C., Rath, A., Ayme, S., and Robinson, P. N. (2012). Ontological phenotype standards for neurogenetics. Hum. Mutat. 33, 1333–1339. Link
  78. Robinson, P. N. (2012). Deep phenotyping for precision medicine. Hum. Mutat. 33, 777–780. Link
  79. Shaikh, A., and Robinson, P. N. (2012). An ADEPT apology. Anaesthesia 67, 432–433. Link
  80. 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. Link
  81. 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. Link
  82. 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. Link
  83. 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. Link
  84. 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. Link
  85. 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. Link
  86. 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. Link
  87. 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. Link
  88. 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. Link
  89. 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. Link
  90. 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. Link
  91. Schulz, M. H., Kohler, S., Bauer, S., and Robinson, P. N. (2011). Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 12, 441. Link
  92. 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. Link
  93. 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. Link
  94. 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. Link
  95. 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. Link
  96. 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. Link
  97. Bauer, S., Robinson, P. N., and Gagneur, J. (2011). Model-based gene set analysis for Bioconductor. Bioinformatics 27, 1882–1883. Link
  98. Lindblom, A., and Robinson, P. N. (2011). Bioinformatics for human genetics: promises and challenges. Hum. Mutat. 32, 495–500. Link
  99. 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. Link
  100. 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. Link
  101. 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. Link
  102. 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. Link
  103. Rodelsperger, 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. Link
  104. 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. Link
  105. 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. Link
  106. 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. Link
  107. 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. Link
  108. Dharmadasa, A., Dean, M., Lucas, D. N., Rao, K., and Robinson, P. N. (2011). SAFE handovers in obstetric anaesthesia. Int J Obstet Anesth 20, 192. Link
  109. 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. Link
  110. 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. Link
  111. 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. Link
  112. 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. Link
  113. 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. Link
  114. 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. Link
  115. Robinson, P. N., and Mundlos, S. (2010). The human phenotype ontology. Clin. Genet. 77, 525–534. Link
  116. 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. Link
  117. Rao, K., Lucas, D. N., and Robinson, P. N. (2010). Surgical safety checklists in obstetrics. Int J Obstet Anesth 19, 235–236. Link
  118. 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. Link
  119. 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. Link
  120. Robinson, P. N. (2010). Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biol. 11, 144. Link
  121. 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. Link
  122. 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. Link
  123. 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. Link
  124. 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. Link
  125. 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. Link
  126. 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. Link
  127. 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. Link
  128. 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. Link
  129. 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. Link
  130. 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. Link
  131. 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. Link
  132. Loughnan, B. A., and Robinson, P. N. (2009). Ethnicity and late booking in an urban obstetric population. Public Health 123, 723–724. Link
  133. 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. Link
  134. 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. Link
  135. 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. Link
  136. 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. Link
  137. 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. Link
  138. 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. Link
  139. 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. Link
  140. 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. Link
  141. 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. Link
  142. Kodolitsch, Y. von, Rybczynski, M., Detter, C., and Robinson, P. N. (2008). Diagnosis and management of Marfan syndrome. Future Cardiol 4, 85–96. Link
  143. 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. Link
  144. 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. Link
  145. 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. Link
  146. Kodolitsch, Y. von, and Robinson, P. N. (2007). Marfan syndrome: an update of genetics, medical and surgical management. Heart 93, 755–760. Link
  147. 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. Link
  148. 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. Link
  149. 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. Link
  150. 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. Link
  151. 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. Link
  152. 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. Link
  153. 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. Link
  154. 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. Link
  155. 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. Link
  156. 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. Link
  157. Gille, C., and Robinson, P. N. (2006). HotSwap for bioinformatics: a STRAP tutorial. BMC Bioinformatics 7, 64. Link
  158. 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. Link
  159. 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. Link
  160. 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. Link
  161. 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. Link
  162. 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. Link
  163. 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. Link
  164. 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. Link
  165. 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. Link
  166. 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. Link
  167. 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. Link
  168. Robinson, P. N., and Booms, P. (2001). The molecular pathogenesis of the Marfan syndrome. Cell. Mol. Life Sci. 58, 1698–1707. Link
  169. Robinson, P. N., and Godfrey, M. (2000). The molecular genetics of Marfan syndrome and related microfibrillopathies. J. Med. Genet. 37, 9–25. Link
  170. 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. Link
  171. 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. Link
  172. 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. Link
  173. 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. Link
  174. 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. Link