| Year |
Citation |
Score |
| 2016 |
Rehman AU, Friedman TB, Griffith AJ. Unresolved questions regarding human hereditary deafness. Oral Diseases. PMID 27259978 DOI: 10.1111/odi.12516 |
0.303 |
|
| 2014 |
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, ... ... Friedman TB, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/Ejhg.2014.266 |
0.304 |
|
| 2012 |
Ali RA, Rehman AU, Khan SN, Husnain T, Riazuddin S, Friedman TB, Ahmed ZM, Riazuddin S. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. Clinical Genetics. 81: 498-500. PMID 22211675 DOI: 10.1111/j.1399-0004.2011.01729.x |
0.41 |
|
| 2012 |
May-Simera H, Rachel R, Choi B, Li T, Friedman T, Swaroop A, Kelley M. Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles Cilia. 1. DOI: 10.1186/2046-2530-1-S1-P94 |
0.315 |
|
| 2011 |
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, ... ... Friedman TB, et al. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. American Journal of Human Genetics. 88: 127-37. PMID 21255762 DOI: 10.1016/J.Ajhg.2010.12.011 |
0.313 |
|
| 2010 |
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. American Journal of Human Genetics. 86: 378-88. PMID 20170899 DOI: 10.1016/j.ajhg.2010.01.030 |
0.358 |
|
| 2009 |
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, ... ... Friedman TB, et al. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics. 85: 25-39. PMID 19576567 DOI: 10.1016/j.ajhg.2009.06.003 |
0.355 |
|
| 2009 |
Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics. 75: 237-43. PMID 19250381 DOI: 10.1111/j.1399-0004.2008.01128.x |
0.349 |
|
| 2009 |
Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 Clinical Genetics. 75: 86-91. PMID 18505454 DOI: 10.1111/j.1399-0004.2008.01038.x |
0.406 |
|
| 2008 |
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, ... ... Friedman TB, et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genetics. 40: 1335-40. PMID 18953341 DOI: 10.1038/ng.245 |
0.349 |
|
| 2008 |
Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ. A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1. Clinical Genetics. 73: 367-72. PMID 18279434 DOI: 10.1111/j.1399-0004.2008.00966.x |
0.395 |
|
| 2008 |
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, ... ... Friedman TB, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics. 82: 125-38. PMID 18179891 DOI: 10.1016/J.Ajhg.2007.09.008 |
0.304 |
|
| 2006 |
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. Journal of Medical Genetics. 43: 634-40. PMID 16459341 DOI: 10.1136/jmg.2005.039834 |
0.303 |
|
| 2002 |
Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC, Friedman TB, Morell RJ. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Human Molecular Genetics. 11: 2877-85. PMID 12393799 |
0.372 |
|
| 2002 |
Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. American Journal of Human Genetics. 71: 632-6. PMID 12145746 DOI: 10.1086/342193 |
0.338 |
|
| 2002 |
Barber TD, Barber MC, Tomescu O, Barr FG, Ruben S, Friedman TB. Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. Genomics. 79: 278-84. PMID 11863357 DOI: 10.1006/Geno.2002.6703 |
0.305 |
|
| 2002 |
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, ... ... Friedman TB, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genetics. 30: 277-84. PMID 11850618 DOI: 10.1038/Ng842 |
0.36 |
|
| 2001 |
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, ... ... Friedman TB, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. American Journal of Human Genetics. 68: 26-37. PMID 11090341 DOI: 10.1086/316954 |
0.336 |
|
| 2000 |
Friedman T, Battey J, Kachar B, Riazuddin S, Noben-Trauth K, Griffith A, Wilcox E. Modifier genes of hereditary hearing loss. Current Opinion in Neurobiology. 10: 487-93. PMID 10981618 DOI: 10.1016/S0959-4388(00)00120-3 |
0.36 |
|
| 2000 |
Pandya A, Oelrich K, Morrell R, Amos KS, Xia XJ, Liu X, Albertorio JR, Blanton SH, Friedman T, Nance WE. Connexin-26 deafness in the United States: Are we ready for the next Millennium? Genetics in Medicine. 2: 64-64. DOI: 10.1097/00125817-200001000-00053 |
0.356 |
|
| 1998 |
DeStefano AL, Cupples LA, Arnos KS, Asher JH, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, et al. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Human Genetics. 102: 499-506. PMID 9654197 DOI: 10.1007/s004390050732 |
0.304 |
|
| 1998 |
Shah ZH, Migliosi V, Miller SC, Wang A, Friedman TB, Jacobs HT. Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. Genomics. 48: 384-8. PMID 9545647 DOI: 10.1006/geno.1997.5166 |
0.316 |
|
| 1998 |
Carey ML, Friedman TB, Asher JH, Innis JW. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. Journal of Medical Genetics. 35: 248-50. PMID 9541113 DOI: 10.1136/jmg.35.3.248 |
0.3 |
|
| 1997 |
Innis JW, Asher JH, Liang Y, Wang A, Wilke CM, Dierick HA, Kazen-Gillespie K, Sheldon S, Glover TW, Friedman TB. Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia. American Journal of Medical Genetics. 71: 292-7. PMID 9268099 DOI: 10.1002/(Sici)1096-8628(19970822)71:3<292::Aid-Ajmg9>3.0.Co;2-W |
0.306 |
|
| 1996 |
Asher JH, Harrison RW, Morell R, Carey ML, Friedman TB. Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Genomics. 34: 285-98. PMID 8786127 DOI: 10.1006/GENO.1996.0289 |
0.31 |
|
| 1992 |
Wallrath LL, Friedman TB. Combinative oligonucleotide-directed large deletions as a strategy for surveying the regulatory region of a gene. Biotechniques. 12: 214-6. PMID 1616711 |
0.594 |
|
| 1992 |
Friedman TB, Burnett JB, Lootens S, Steinman R, Wallrath LL. The urate oxidase gene of Drosophila pseudoobscura and Drosophila melanogaster: evolutionary changes of sequence and regulation. Journal of Molecular Evolution. 34: 62-77. PMID 1556745 |
0.606 |
|
| 1991 |
Wallrath LL, Friedman TB. Species differences in the temporal pattern of Drosophila urate oxidase gene expression are attributed to trans-acting regulatory changes. Proceedings of the National Academy of Sciences of the United States of America. 88: 5489-93. PMID 2062830 DOI: 10.1073/pnas.88.13.5489 |
0.603 |
|
| 1991 |
Friedman TB, Owens KN, Burnett JB, Saura AO, Wallrath LL. The faint band/interband region 28C2 to 28C4-5(-) of the Drosophila melanogaster salivary gland polytene chromosomes is rich in transcripts. Molecular & General Genetics : Mgg. 226: 81-7. PMID 1903504 DOI: 10.1007/BF00273590 |
0.551 |
|
| 1990 |
Wallrath LL, Burnett JB, Friedman TB. Molecular characterization of the Drosophila melanogaster urate oxidase gene, an ecdysone-repressible gene expressed only in the malpighian tubules. Molecular and Cellular Biology. 10: 5114-27. PMID 2118989 |
0.622 |
|
| 1988 |
Johnson DH, Edström JE, Burnett JB, Friedman TB. Cloning of a Drosophila melanogaster adenine phosphoribosyltransferase structural gene and deduced amino acid sequence of the enzyme. Gene. 59: 77-86. PMID 3125085 DOI: 10.1016/0378-1119(87)90268-X |
0.324 |
|
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