DFNB3, Spectrum of MYO15A Recessive Mutant Alleles and an Emerging Genotype-Phenotype Correlation

T.B. Friedman , J.T. Hinnant , M. Ghosh , E.T. Boger
Advances in oto-rhino-laryngology 61 124 -130

17
2002
Clinical presentation of DFNB12 and Usher syndrome type 1D.

J.M. Bork , R.J. Morell , S. Khan , S. Riazuddin
Advances in oto-rhino-laryngology 61 145 -152

14
2002
A FRAMESHIFT MUTATION IN MITF CO-SEGREGATES ONLY WITH WAARDENBURG SYNDROME TYPE-2 (WS2) IN A FAMILY WITH BOTH WS2 AND OCULAR ALBINISM (OA)

R MORELL , J PIERPONT , W GUO , TB FRIEDMAN
AMERICAN JOURNAL OF HUMAN GENETICS 57 ( 4) 1276 -1276

1995
LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS NOT PREDICTIVE OF CLINICAL SUBTYPES

LA FARRER , JH ASHER , CT BALDWIN , TB FRIEDMAN
AMERICAN JOURNAL OF HUMAN GENETICS 53 ( 3) 1156 -1156

1993
GENETIC AND MOLECULAR ANALYSES OF A MICRODISSECTION LIBRARY FROM HUMAN 2Q34-2Q37

TD BARBER , TB FRIEDMAN , R MORELL , DH JOHNSON
CYTOGENETICS AND CELL GENETICS 64 ( 2) 89 -89

1993
A WAARDENBURG SYNDROME TYPE-2 (WS2) MUTATION NOT LINKED TO PAX3

JH ASHER , JW PIERPONT , TB FRIEDMAN
AMERICAN JOURNAL OF HUMAN GENETICS 53 ( 3) 1685 -1685

1993
TEMPORAL AND QUANTITATIVE REGULATION OF URATE OXIDASE ACTIVITY IN MALPIGHIAN TUBULES OF DROSOPHILA

TB FRIEDMAN , DH JOHNSON , MS WING
JOURNAL OF CELL BIOLOGY 75 ( 2) A48 -A48

1977
IMMUNOCHEMICAL STUDIES OF REAGIC SERUM FRACTIONS OBTAINED BY THE ELECTROPHORESIS-CONVECTION TECHNIQUES

DH CAMPBELL , JR CANN , TB FRIEDMAN , RA BROWN
JOURNAL OF ALLERGY 21 ( 3) 263 -263

1950
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes

Aubrey Milunsky , Kenneth M. Grundfast , Rajkumar Ramesar , Christopher Hoth
American Journal of Human Genetics 55 ( 4) 728 -737

49
1994
Auditory Function and the M34T Allele of Connexin 26

Andrew J. Griffith , Thomas B. Friedman
Archives of Otolaryngology-head & Neck Surgery 128 ( 1) 94 -94

5
2002
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration

Gregory Frolenkov , Thomas B. Friedman , Saima Riazuddin , Ronald A. Bush
Molecular Vision 14 2227 -2236

12
2008
Semi-automated single-molecule microscopy screening of fast-dissociating specific antibodies directly from hybridoma cultures

Inna A. Belyantseva , Koichi Omori , Takushi Miyoshi , Jiji Chen
Cell Reports 34 ( 5) 108708 -108708

2021
CO2 Production from Galactose in Galactose-1-Phosphate Uridyl Transferase-Deficient Escherichia coli

Robert J. LaPolla , Mark R. Geier , Thomas B. Friedman , Carl R. Merril
Journal of Bacteriology 124 ( 1) 558 -561

3
1975
Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

Jeong-In Baek , Hong-Joon Park , Kyungjoon Park , Su-Jin Choi
Biochimica et Biophysica Acta 1812 ( 4) 536 -543

17
2011
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Rizwan Yousaf , Chunfang Gu , Zubair M. Ahmed , Shaheen N. Khan
PLOS Genetics 14 ( 3)

32
2018
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Saima Riazuddin , Shaheen N. Khan , Zubair M. Ahmed , Manju Ghosh
American Journal of Human Genetics 78 ( 1) 137 -143

77
2006
A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1

Thomas D. Barber , Robert Morell , Daniel H. Johnson , James H. Asher
Human Molecular Genetics 2 ( 1) 88 -88

5
1993