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Robert J. Morell
Robert J. Morell
National Institute on Deafness and other Communication Disorders (NIDCD) / NIH
在 nidcd.nih.gov 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
7581998
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
6442001
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
5692001
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
5341998
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
5341998
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
4802001
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
4221998
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
3342018
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
2911992
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
2582002
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
2562003
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
2432013
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
2352003
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
2322010
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
2242015
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
2102003
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
2072005
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
1642002
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
1572005
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
1372004
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