Detalhe da pesquisa
1.
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
Cell
; 154(3): 518-29, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911319
2.
Inherited predisposition to breast cancer among African American women.
Breast Cancer Res Treat
; 149(1): 31-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428789
3.
Transcriptional analysis of four family 4 P450s in a Puerto Rico strain of Aedes aegypti (Diptera: Culicidae) compared with an Orlando strain and their possible functional roles in permethrin resistance.
J Med Entomol
; 51(3): 605-15, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24897853
4.
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Proc Natl Acad Sci U S A
; 108(44): 18032-7, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22006311
5.
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
Cancer
; 119(2): 332-8, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22811390
6.
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Am J Hum Genet
; 87(2): 282-8, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20673864
7.
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
Am J Hum Genet
; 87(1): 90-4, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602914
8.
Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.
Gynecol Oncol
; 128(3): 483-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23262210
9.
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.
Proc Natl Acad Sci U S A
; 107(28): 12629-33, 2010 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20616022
10.
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
Clin Cancer Res
; 20(3): 764-75, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24240112
11.
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
J Mol Diagn
; 14(4): 357-66, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658618