Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema A Sandilands, A Terron-Kwiatkowski, PR Hull, GM O'Regan, TH Clayton, ... Nature genetics 39 (5), 650-654, 2007 | 804 | 2007 |
GJB2 mutations and degree of hearing loss: a multicenter study RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ... The American Journal of Human Genetics 77 (6), 945-957, 2005 | 688 | 2005 |
Eculizumab for atypical hemolytic–uremic syndrome J Nürnberger, T Philipp, O Witzke, AO Saez, U Vester, HA Baba, ... New England Journal of Medicine 360 (5), 542-544, 2009 | 437 | 2009 |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ... The American Journal of Human Genetics 76 (2), 227-236, 2005 | 435 | 2005 |
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ... The American Journal of Human Genetics 69 (3), 481-492, 2001 | 422 | 2001 |
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity T Müller, MW Hess, N Schiefermeier, K Pfaller, HL Ebner, P Heinz-Erian, ... Nature genetics 40 (10), 1163-1165, 2008 | 376 | 2008 |
Variants in CPA1 are strongly associated with early onset chronic pancreatitis H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ... Nature genetics 45 (10), 1216-1220, 2013 | 329 | 2013 |
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function R Gruber, PM Elias, D Crumrine, TK Lin, JM Brandner, JP Hachem, ... The American journal of pathology 178 (5), 2252-2263, 2011 | 285 | 2011 |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy AR Janecke, DA Thompson, G Utermann, C Becker, CA Hübner, ... Nature genetics 36 (8), 850-854, 2004 | 267 | 2004 |
Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 265 | 2009 |
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification C Tasse, S Böhringer, S Fischer, HJ Lüdecke, B Albrecht, D Horn, ... European journal of medical genetics 48 (4), 397-411, 2005 | 264 | 2005 |
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 C Giunta, NH Elçioglu, B Albrecht, G Eich, C Chambaz, AR Janecke, ... The American Journal of Human Genetics 82 (6), 1290-1305, 2008 | 240 | 2008 |
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 230 | 2011 |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics C Dafinger, MC Liebau, SM Elsayed, Y Hellenbroich, E Boltshauser, ... The Journal of clinical investigation 121 (7), 2662-2667, 2011 | 217 | 2011 |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity E Lausch, A Janecke, M Bros, S Trojandt, Y Alanay, C De Laet, ... Nature genetics 43 (2), 132-137, 2011 | 187 | 2011 |
Loss of syntaxin 3 causes variant microvillus inclusion disease CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ... Gastroenterology 147 (1), 65-68. e10, 2014 | 183 | 2014 |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ... Nature genetics 44 (10), 1080-1083, 2012 | 153 | 2012 |
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I C Guelly, PP Zhu, L Leonardis, L Papić, J Zidar, M Schabhüttl, ... The American Journal of Human Genetics 88 (1), 99-105, 2011 | 152 | 2011 |
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome M Dündar, T Müller, QI Zhang, J Pan, B Steinmann, J Vodopiutz, R Gruber, ... The American Journal of Human Genetics 85 (6), 873-882, 2009 | 151 | 2009 |
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings R Mayr, AR Janecke, M Schranz, WJH Griffiths, W Vogel, A Pietrangelo, ... Journal of hepatology 53 (5), 941-949, 2010 | 149 | 2010 |