| Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11) AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ... Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006 | 544 | 2006 |
| Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ... Nature genetics 31 (4), 435-438, 2002 | 428 | 2002 |
| Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease EM Stone, JL Andorf, SS Whitmore, AP DeLuca, JC Giacalone, LM Streb, ... Ophthalmology 124 (9), 1314-1331, 2017 | 395 | 2017 |
| An autosomal genomic screen for autism. Collaborative linkage study of autism. S Barrett, JC Beck, R Bernier, E Bisson, TA Braun, TL Casavant, ... American journal of medical genetics 88 (6), 609-615, 1999 | 394 | 1999 |
| Missense variations in the fibulin 5 gene and age-related macular degeneration EM Stone, TA Braun, SR Russell, MH Kuehn, AJ Lotery, PA Moore, ... New England Journal of Medicine 351 (4), 346-353, 2004 | 385 | 2004 |
| Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly K Mykytyn, RF Mullins, M Andrews, AP Chiang, RE Swiderski, B Yang, ... Proceedings of the National Academy of Sciences 101 (23), 8664-8669, 2004 | 375 | 2004 |
| Regulation of gene expression in the mammalian eye and its relevance to eye disease TE Scheetz, KYA Kim, RE Swiderski, AR Philp, TA Braun, KL Knudtson, ... Proceedings of the National Academy of Sciences 103 (39), 14429-14434, 2006 | 336 | 2006 |
| Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ... Nature genetics 28 (2), 188-191, 2001 | 316 | 2001 |
| Evidence supporting WNT2 as an autism susceptibility gene TH Wassink, J Piven, VJ Vieland, J Huang, RE Swiderski, J Pietila, ... American journal of medical genetics 105 (5), 406-413, 2001 | 288 | 2001 |
| Genomic landscape and mutational signatures of deafness-associated genes H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ... The American Journal of Human Genetics 103 (4), 484-497, 2018 | 261 | 2018 |
| Comparative genomic analysis identifies an ADP-ribosylation factor–like gene as the cause of Bardet-Biedl syndrome (BBS3) AP Chiang, D Nishimura, C Searby, K Elbedour, R Carmi, AL Ferguson, ... The American Journal of Human Genetics 75 (3), 475-484, 2004 | 256 | 2004 |
| Incorporating language phenotypes strengthens evidence of linkage to autism Y Bradford, J Haines, H Hutcheson, M Gardiner, T Braun, V Sheffield, ... American journal of medical genetics 105 (6), 539-547, 2001 | 238 | 2001 |
| Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa BA Tucker, RF Mullins, LM Streb, K Anfinson, ME Eyestone, E Kaalberg, ... elife 2, e00824, 2013 | 233 | 2013 |
| Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease TA Braun, RF Mullins, AH Wagner, JL Andorf, RM Johnston, BB Bakall, ... Human molecular genetics 22 (25), 5136-5145, 2013 | 223 | 2013 |
| 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 | 170 | 2014 |
| CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype ER Burnight, LA Wiley, AV Drack, TA Braun, KR Anfinson, EE Kaalberg, ... Gene therapy 21 (7), 662-672, 2014 | 161 | 2014 |
| 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 | 150 | 2012 |
| Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, ... Ophthalmic genetics 29 (1), 17-24, 2008 | 143 | 2008 |
| Advancing genetic testing for deafness with genomic technology AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, ... Journal of medical genetics 50 (9), 627-634, 2013 | 133 | 2013 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 126 | 2014 |
