King MC - Search Results

1

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

Steinberg-Shemer O, Keel S, Dgany O, Walsh T, Noy-Lotan S, Krasnov T, Yacobovich J, Quarello P, Ramenghi U, King MC, Shimamura A, Tamary H. Steinberg-Shemer O, et al. Among authors: king mc. J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587. J Pediatr Hematol Oncol. 2016. PMID: 27258031 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: king mc. 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

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.

Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB. Walsh T, et al. Among authors: king mc. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7518-23. doi: 10.1073/pnas.102091699. Proc Natl Acad Sci U S A. 2002. PMID: 12032315 Free PMC article.

4

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: king mc. 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

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. Among authors: king mc. 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

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Walsh T, et al. Among authors: king mc. JAMA. 2006 Mar 22;295(12):1379-88. doi: 10.1001/jama.295.12.1379. JAMA. 2006. PMID: 16551709

7

Ten genes for inherited breast cancer.

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

8

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. Among authors: king mc. 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.

9

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Among authors: king mc. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.

10

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Walsh T, et al. Among authors: king mc. Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28. Proc Natl Acad Sci U S A. 2010. PMID: 20616022 Free PMC article.

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