Thomas B. Friedman
Thomas B. Friedman
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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
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
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
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
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
A mutation in PDS causes non-syndromic recessive deafness
XC Li, LA Everett, AK Lalwani, D Desmukh, TB Friedman, ED Green, ...
Nature genetics 18 (3), 215-217, 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
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
K Kurima, LM Peters, Y Yang, S Riazuddin, ZM Ahmed, S Naz, D Arnaud, ...
Nature genetics 30 (3), 277-284, 2002
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
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
T Ben-Yosef, IA Belyantseva, TL Saunders, ED Hughes, K Kawamoto, ...
Human molecular genetics 12 (16), 2049-2061, 2003
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
IA Belyantseva, ET Boger, S Naz, GI Frolenkov, JR Sellers, ZM Ahmed, ...
Nature cell biology 7 (2), 148-156, 2005
Tricellulin is a tight-junction protein necessary for hearing
S Riazuddin, ZM Ahmed, AS Fanning, A Lagziel, S Kitajiri, K Ramzan, ...
The American Journal of Human Genetics 79 (6), 1040-1051, 2006
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
ZM Ahmed, S Riazuddin, J Ahmad, SL Bernstein, Y Guo, MF Sabar, ...
Human molecular genetics 12 (24), 3215-3223, 2003
Human nonsyndromic sensorineural deafness
TB Friedman, AJ Griffith
Annual review of genomics and human genetics 4 (1), 341-402, 2003
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
ZM Ahmed, R Goodyear, S Riazuddin, A Lagziel, PK Legan, M Behra, ...
Journal of Neuroscience 26 (26), 7022-7034, 2006
Genetic insights into the morphogenesis of inner ear hair cells
GI Frolenkov, IA Belyantseva, TB Friedman, AJ Griffith
Nature Reviews Genetics 5 (7), 489-498, 2004
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
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
TB Friedman, Y Liang, JL Weber, JT Hinnant, TD Barber, S Winata, ...
Nature genetics 9 (1), 86-91, 1995
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
S Vreugde, A Erven, CJ Kros, W Marcotti, H Fuchs, K Kurima, ER Wilcox, ...
Nature genetics 30 (3), 257-258, 2002
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
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