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Items: 1 to 20 of 353

1.

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.

Wehr C, Grotius K, Casadei S, Bleckmann D, Bode SFN, Frye BC, Seidl M, Gulsuner S, King MC, Percival MB, Pritchard CC, Walsh T, Wu D, Keel S, Salzer U.

Blood. 2018 Jul 20. pii: blood-2018-03-837336. doi: 10.1182/blood-2018-03-837336. [Epub ahead of print] No abstract available.

PMID:
30030275
2.

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

Shirts BH, Konnick EQ, Upham S, Walsh T, Ranola JMO, Jacobson AL, King MC, Pearlman R, Hampel H, Pritchard CC.

Am J Hum Genet. 2018 Jul 5;103(1):19-29. doi: 10.1016/j.ajhg.2018.05.001. Epub 2018 Jun 7.

PMID:
29887214
3.

Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2-Reply.

King MC, Walsh T.

JAMA Oncol. 2018 Jul 1;4(7):1012-1013. doi: 10.1001/jamaoncol.2018.0616. No abstract available.

PMID:
29800948
4.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R.

J Med Genet. 2018 May 15. pii: jmedgenet-2018-105330. doi: 10.1136/jmedgenet-2018-105330. [Epub ahead of print]

PMID:
29764912
5.

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.

PMID:
29712865
6.

Rev7 and 53BP1/Crb2 prevent RecQ helicase-dependent hyper-resection of DNA double-strand breaks.

Leland BA, Chen AC, Zhao AY, Wharton RC, King MC.

Elife. 2018 Apr 26;7. pii: e33402. doi: 10.7554/eLife.33402.

7.

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce SB, Stewart MD, Gulsuner S, Walsh T, Dhall A, McClellan JM, Klevit RE, King MC.

Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1558-1563. doi: 10.1073/pnas.1721290115. Epub 2018 Jan 31.

8.

BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.

Stewart MD, Zelin E, Dhall A, Walsh T, Upadhyay E, Corn JE, Chatterjee C, King MC, Klevit RE.

Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):1316-1321. doi: 10.1073/pnas.1715467115. Epub 2018 Jan 24.

9.

Diagnostic per-lesion performance of a simulated gadoxetate disodium-enhanced abbreviated MRI protocol for hepatocellular carcinoma screening.

Tillman BG, Gorman JD, Hru JM, Lee MH, King MC, Sirlin CB, Marks RM.

Clin Radiol. 2018 May;73(5):485-493. doi: 10.1016/j.crad.2017.11.013. Epub 2017 Dec 12.

PMID:
29246586
10.

Multiplexed fluctuation-dissipation-theorem calibration of optical tweezers inside living cells.

Yan H, Johnston JF, Cahn SB, King MC, Mochrie SGJ.

Rev Sci Instrum. 2017 Nov;88(11):113112. doi: 10.1063/1.5012782.

PMID:
29195389
11.

Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study.

Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes F, Mannel RS, Glaser G, Bailey C, Rubin S, Soper J, Lankes HA, Ramirez NC, King MC, Birrer MJ, Swisher EM.

Clin Cancer Res. 2018 Feb 15;24(4):777-783. doi: 10.1158/1078-0432.CCR-17-1327. Epub 2017 Nov 30.

PMID:
29191972
12.

Gene Discovery for Complex Traits: Lessons from Africa.

McClellan JM, Lehner T, King MC.

Cell. 2017 Oct 5;171(2):261-264. doi: 10.1016/j.cell.2017.09.037.

PMID:
28985555
13.

A Time to Sequence.

Baxter SK, King MC.

JAMA Pediatr. 2017 Dec 4;171(12):e173435. doi: 10.1001/jamapediatrics.2017.3435. Epub 2017 Dec 4. No abstract available.

PMID:
28973099
14.

Not just Salk.

Greider C, Hopkins N, Steitz J, Amon A, Asai D, Barres B, Bass B, Bassler B, Birgeneau R, Bjorkman P, Botchan M, Brugge J, Cech T, Colwell R, Craig N, deLange T, Eisen M, Gottesman S, Green R, Handelsman J, Kimble J, King MC, Lehmann R, Marder E, Mullins D, O'Shea E, Schmid S, Seydoux G, Spradling A, Storz G, Szostak J, Telesnitsky A, Tilghman S, Tjian R, Vale R, Wolberger C, Zakian V.

Science. 2017 Sep 15;357(6356):1105-1106. doi: 10.1126/science.aao6221. No abstract available.

PMID:
28912235
15.

Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.

JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

16.

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.

Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A.

Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30.

17.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

18.

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.

Lieberman S, Walsh T, Schechter M, Adar T, Goldin E, Beeri R, Sharon N, Baris H, Ben Avi L, Half E, Lerer I, Shirts BH, Pritchard CC, Tomlinson I, King MC, Levy-Lahad E, Peretz T, Goldberg Y.

Gastroenterology. 2017 Jun;152(8):1876-1880.e1. doi: 10.1053/j.gastro.2017.02.014. Epub 2017 Feb 24.

PMID:
28242209
19.

The nucleus: keeping it together by keeping it apart.

Lusk CP, King MC.

Curr Opin Cell Biol. 2017 Feb;44:44-50. doi: 10.1016/j.ceb.2017.02.001. Epub 2017 Feb 23. Review.

20.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T.

Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.

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