| GRIN2A mutations cause epilepsy-aphasia spectrum disorders GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ... Nature genetics 45 (9), 1073-1076, 2013 | 417 | 2013 |
| Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola, S Scherer, ... Proceedings of the National Academy of Sciences 107 (49), 21104-21109, 2010 | 365 | 2010 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 316 | 2015 |
| Hereditary hearing loss and deafness overview AE Shearer, MS Hildebrand, RJH Smith | 289 | 2017 |
| Human male infertility caused by mutations in the CATSPER1 channel protein MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ... The American Journal of Human Genetics 84 (4), 505-510, 2009 | 276 | 2009 |
| Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children WJ Kimberling, MS Hildebrand, AE Shearer, ML Jensen, JA Halder, ... Genetics in Medicine 12 (8), 512-516, 2010 | 267 | 2010 |
| Deafness and hereditary hearing loss overview RJH Smith, AE Shearer, MS Hildebrand, G Van Camp GeneReviews, 1993 | 237 | 1993 |
| Clinical aspects of hereditary hearing loss A Kochhar, MS Hildebrand, RJH Smith Genetics in medicine 9 (7), 393-408, 2007 | 227 | 2007 |
| Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ... Brain 136 (10), 3140-3150, 2013 | 194 | 2013 |
| Recent advances in the molecular genetics of epilepsy MS Hildebrand, HHM Dahl, JA Damiano, RJH Smith, IE Scheffer, ... Journal of medical genetics 50 (5), 271-279, 2013 | 189 | 2013 |
| Genetic male infertility and mutation of CATSPER ion channels MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ... European Journal of Human Genetics 18 (11), 1178-1184, 2010 | 184 | 2010 |
| Ultra-rare genetic variation in common epilepsies: a case-control sequencing study AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ... The Lancet Neurology 16 (2), 135-143, 2017 | 168 | 2017 |
| Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ... The American Journal of Human Genetics 95 (4), 445-453, 2014 | 167 | 2014 |
| Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans N Grillet, M Schwander, MS Hildebrand, A Sczaniecka, A Kolatkar, ... The American Journal of Human Genetics 85 (3), 328-337, 2009 | 158 | 2009 |
| SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, ... Neurology 92 (2), e96-e107, 2019 | 147 | 2019 |
| Genetic epilepsy with febrile seizures plus: Refining the spectrum YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ... Neurology 89 (12), 1210-1219, 2017 | 147 | 2017 |
| A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development E Eising, A Carrion-Castillo, A Vino, EA Strand, KJ Jakielski, TS Scerri, ... Molecular psychiatry 24 (7), 1065-1078, 2019 | 145 | 2019 |
| Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4) J Zheng, KK Miller, T Yang, MS Hildebrand, AE Shearer, AP DeLuca, ... Proceedings of the National Academy of Sciences 108 (10), 4218-4223, 2011 | 144 | 2011 |
| Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis RW Eppsteiner, AE Shearer, MS Hildebrand, AP DeLuca, H Ji, CC Dunn, ... Hearing research 292 (1-2), 51-58, 2012 | 142 | 2012 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 130 | 2011 |
