Mandell JB - Search Results

1

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KCY, Mancl L, Rubinstein J, King MC. Carlson RJ, et al. Among authors: mandell jb. JAMA Otolaryngol Head Neck Surg. 2023 Mar 1;149(3):212-222. doi: 10.1001/jamaoto.2022.4463. JAMA Otolaryngol Head Neck Surg. 2023. PMID: 36633841 Free PMC article.

2

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.

King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. King MC, et al. Among authors: mandell jb. Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759. Science. 2003. PMID: 14576434

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: mandell jb. 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

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. JAMA. 2006 Mar 22;295(12):1379-88. doi: 10.1001/jama.295.12.1379. JAMA. 2006. PMID: 16551709

5

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: mandell jb. 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.

6

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC. Casadei S, et al. Among authors: mandell jb. Cancer Res. 2011 Mar 15;71(6):2222-9. doi: 10.1158/0008-5472.CAN-10-3958. Epub 2011 Feb 1. Cancer Res. 2011. PMID: 21285249 Free PMC article.

7

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG. Pierce SB, et al. Among authors: mandell jb. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31. Proc Natl Acad Sci U S A. 2011. PMID: 22042873 Free PMC article.

8

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM. Wickramanayake A, et al. Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Gynecol Oncol. 2012. PMID: 22986143 Free PMC article.

9

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E. Gabai-Kapara E, et al. Among authors: mandell jb. Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5. Proc Natl Acad Sci U S A. 2014. PMID: 25192939 Free PMC article.

10

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC. Pierce SB, et al. Among authors: mandell jb. Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a001107. doi: 10.1101/mcs.a001107. Cold Spring Harb Mol Case Stud. 2016. PMID: 27551684 Free PMC article.

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