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.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
3.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864888
4.
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
J Med Genet
; 58(12): 850-852, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060287
5.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Proc Natl Acad Sci U S A
; 116(52): 26798-26807, 2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843900
6.
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Proc Natl Acad Sci U S A
; 115(20): 5241-5246, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29712865
7.
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Ophthalmology
; 127(5): 668-678, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32081490
8.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
9.
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
N Engl J Med
; 375(5): 443-53, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27433846
10.
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.
Genet Med
; 21(6): 1435-1442, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374176
11.
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Int J Cancer
; 141(4): 750-756, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28486781
12.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099575
13.
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
Breast Cancer Res Treat
; 160(1): 121-129, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624329
14.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Genet Med
; 18(10): 974-81, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845104
15.
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
16.
A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.
Blood
; 132(11): 1211-1215, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030275
17.
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.
Genet Med
; 16(10): 783-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24675673
18.
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
19.
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
20.
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