Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness RJ Morell, HJ Kim, LJ Hood, L Goforth, K Friderici, R Fisher, G Van Camp, ... New England Journal of Medicine 339 (21), 1500-1505, 1998 | 758 | 1998 |
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, ... The American Journal of Human Genetics 68 (1), 26-37, 2001 | 644 | 2001 |
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 ER Wilcox, QL Burton, S Naz, S Riazuddin, TN Smith, B Ploplis, ... Cell 104 (1), 165-172, 2001 | 569 | 2001 |
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3 A Wang, Y Liang, RA Fridell, FJ Probst, ER Wilcox, JW Touchman, ... Science 280 (5368), 1447-1451, 1998 | 534 | 1998 |
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene FJ Probst, RA Fridell, Y Raphael, TL Saunders, A Wang, Y Liang, ... Science 280 (5368), 1444-1447, 1998 | 534 | 1998 |
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F ZM Ahmed, S Riazuddin, SL Bernstein, Z Ahmed, S Khan, AJ Griffith, ... The American Journal of Human Genetics 69 (1), 25-34, 2001 | 480 | 2001 |
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans O Vahava, R Morell, ED Lynch, S Weiss, ME Kagan, N Ahituv, JE Morrow, ... Science 279 (5358), 1950-1954, 1998 | 422 | 1998 |
A dysbiotic microbiome triggers TH17 cells to mediate oral mucosal immunopathology in mice and humans N Dutzan, T Kajikawa, L Abusleme, T Greenwell-Wild, CE Zuazo, ... Science translational medicine 10 (463), eaat0797, 2018 | 334 | 2018 |
Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium LA Farrer, KM Grundfast, J Amos, KS Arnos, JH Asher, P Beighton, ... American journal of human genetics 50 (5), 902, 1992 | 291 | 1992 |
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ... The American Journal of Human Genetics 71 (2), 262-275, 2002 | 258 | 2002 |
Mutations in the γ-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26) M Zhu, T Yang, S Wei, AT DeWan, RJ Morell, JL Elfenbein, RA Fisher, ... The American Journal of Human Genetics 73 (5), 1082-1091, 2003 | 256 | 2003 |
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ... The American Journal of Human Genetics 92 (4), 605-613, 2013 | 243 | 2013 |
Mutations of MYO6 are associated with recessive deafness, DFNB37 ZM Ahmed, RJ Morell, S Riazuddin, A Gropman, S Shaukat, MM Ahmad, ... The American Journal of Human Genetics 72 (5), 1315-1322, 2003 | 235 | 2003 |
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 AU Rehman, RJ Morell, IA Belyantseva, SY Khan, ET Boger, M Shahzad, ... The American Journal of Human Genetics 86 (3), 378-388, 2010 | 232 | 2010 |
Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear JC Burns, MC Kelly, M Hoa, RJ Morell, MW Kelley Nature communications 6 (1), 8557, 2015 | 224 | 2015 |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands A Pandya, KS Arnos, XJ Xia, KO Welch, SH Blanton, TB Friedman, ... Genetics in Medicine 5 (4), 295-303, 2003 | 210 | 2003 |
Modification of human hearing loss by plasma-membrane calcium pump PMCA2 JM Schultz, Y Yang, AJ Caride, AG Filoteo, AR Penheiter, A Lagziel, ... New England Journal of Medicine 352 (15), 1557-1564, 2005 | 207 | 2005 |
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus S Naz, CM Giguere, DC Kohrman, KL Mitchem, S Riazuddin, RJ Morell, ... The American Journal of Human Genetics 71 (3), 632-636, 2002 | 164 | 2002 |
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development A Lagziel, ZM Ahmed, JM Schultz, RJ Morell, IA Belyantseva, ... Developmental biology 280 (2), 295-306, 2005 | 157 | 2005 |
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6) SA Mohiddin, ZM Ahmed, AJ Griffith, D Tripodi, TB Friedman, ... Journal of medical genetics 41 (4), 309-314, 2004 | 137 | 2004 |