Walsh T - Search Results

1

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, Hasanefendioğlu-Bayrak A, Duman D, Farooq A, King MC, Tekin M. Sirmaci A, et al. Among authors: walsh t. Am J Hum Genet. 2010 Nov 12;87(5):679-86. doi: 10.1016/j.ajhg.2010.09.018. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035106 Free PMC article.

2

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. Shahin H, et al. Among authors: walsh t. Hum Genet. 2002 Mar;110(3):284-9. doi: 10.1007/s00439-001-0674-2. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935342

3

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Shaag A, et al. Among authors: walsh t. Hum Mol Genet. 2005 Feb 15;14(4):555-63. doi: 10.1093/hmg/ddi052. Epub 2005 Jan 13. Hum Mol Genet. 2005. PMID: 15649950

4

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Shahin H, et al. Among authors: walsh t. Am J Hum Genet. 2006 Jan;78(1):144-52. doi: 10.1086/499495. Epub 2005 Nov 21. Am J Hum Genet. 2006. PMID: 16385458 Free PMC article.

5

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M. Walsh T, et al. Hum Genomics. 2006 Jan;2(4):203-11. doi: 10.1186/1479-7364-2-4-203. Hum Genomics. 2006. PMID: 16460646 Free PMC article.

6

Ten genes for inherited breast cancer.

Walsh T, King MC. Walsh T, et al. Cancer Cell. 2007 Feb;11(2):103-5. doi: 10.1016/j.ccr.2007.01.010. Cancer Cell. 2007. PMID: 17292821 Free article.

7

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Among authors: walsh t, walsh v. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.

8

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M. Shahin H, et al. Among authors: walsh t. Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888295 Free PMC article.

9

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T. Shahin H, et al. Among authors: walsh t. J Med Genet. 2010 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472657

10

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Walsh T, et al. Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602914 Free PMC article.

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