Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 10

1.

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.

Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Erratum in: Gynecol Oncol. 2014 Jan;132(1):260. Wickramanyake, Anneka [corrected to Wickramanayake, Anneka].

2.

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.

Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.

3.

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM.

Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. doi: 10.1073/pnas.1115052108. Epub 2011 Oct 17.

4.

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.

Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J; STAART Psychopharmacology Network, King B, King MC, McClellan JM.

Eur J Hum Genet. 2011 Jun;19(6):727-31. doi: 10.1038/ejhg.2011.24. Epub 2011 Mar 30.

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.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28.

6.

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.

Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J.

Science. 2008 Apr 25;320(5875):539-43. doi: 10.1126/science.1155174. Epub 2008 Mar 27.

7.

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.

JAMA. 2006 Mar 22;295(12):1379-88.

PMID:
16551709
8.

Human platelet glycoprotein V: its role in enhancing expression of the glycoprotein Ib receptor.

Calverley DC, Yagi M, Stray SM, Roth GJ.

Blood. 1995 Aug 15;86(4):1361-7.

9.

Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients.

Reiner AP, Stray SM, Thompson AR.

Thromb Res. 1992 Apr 1;66(1):93-9. No abstract available.

PMID:
1412186
10.

Ferrokinetic measurement of erythropoiesis.

Beguin Y, Stray SM, Cazzola M, Huebers HA, Finch CA.

Acta Haematol. 1988;79(3):121-6.

PMID:
3128034

Supplemental Content

Loading ...
Support Center