| An SCN9A channelopathy causes congenital inability to experience pain JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ... Nature 444 (7121), 894-898, 2006 | 1862 | 2006 |
| Using whole-exome sequencing to identify inherited causes of autism WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ... Neuron 77 (2), 259-273, 2013 | 513 | 2013 |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006 | 505 | 2006 |
| Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ... Science 319 (5864), 816-819, 2008 | 455 | 2008 |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009 | 419 | 2009 |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ... The American Journal of Human Genetics 83 (2), 170-179, 2008 | 412 | 2008 |
| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 401 | 2004 |
| Genetic disorders in the Arab world L Al-Gazali, H Hamamy, S Al-Arrayad Bmj 333 (7573), 831-834, 2006 | 384 | 2006 |
| Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali, EA Hennekam, ... Nature genetics 41 (12), 1272-1274, 2009 | 358 | 2009 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 343 | 2016 |
| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ... Nature genetics 39 (8), 957-959, 2007 | 328 | 2007 |
| Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria T Dixon-Salazar, JL Silhavy, SE Marsh, CM Louie, LC Scott, A Gururaj, ... The American Journal of Human Genetics 75 (6), 979-987, 2004 | 316 | 2004 |
| SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ... Cell 142 (2), 203-217, 2010 | 308 | 2010 |
| consanguineous marriages in the United Arab Emirates LI Al-Gazali, A Bener, YM Abdulrazzaq, R Micallef, AI Al-Khayat, T Gaber Journal of biosocial science 29 (4), 491-497, 1997 | 303 | 1997 |
| Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy AK Agarwal, V Simha, EA Oral, SA Moran, P Gorden, S O’Rahilly, Z Zaidi, ... The Journal of Clinical Endocrinology & Metabolism 88 (10), 4840-4847, 2003 | 290 | 2003 |
| Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ... The American Journal of Human Genetics 79 (2), 402-408, 2006 | 277 | 2006 |
| 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 | 260 | 2009 |
| High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium L Pereira, M Richards, A Goios, A Alonso, C Albarrán, O Garcia, ... Genome research 15 (1), 19-24, 2005 | 236 | 2005 |
| Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome FJ Martinez, JH Lee, JE Lee, S Blanco, E Nickerson, S Gabriel, M Frye, ... Journal of medical genetics 49 (6), 380-385, 2012 | 227 | 2012 |
| CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome–related disorders F Brancati, G Barrano, JL Silhavy, SE Marsh, L Travaglini, SL Bielas, ... The American Journal of Human Genetics 81 (1), 104-113, 2007 | 226 | 2007 |
