Detalhe da pesquisa
1.
Resolving the full spectrum of human genome variation using Linked-Reads.
Genome Res
; 29(4): 635-645, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894395
2.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
3.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Am J Hum Genet
; 100(5): 725-736, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475857
4.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
5.
Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.
Hum Mol Genet
; 24(4): 1169-76, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25281660
6.
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
7.
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
Nat Genet
; 39(2): 165-7, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200668
8.
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Nat Genet
; 39(2): 162-4, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200671
9.
A common coding variant in CASP8 is associated with breast cancer risk.
Nat Genet
; 39(3): 352-8, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17293864
10.
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
Nat Genet
; 38(8): 873-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16832357
11.
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Nat Genet
; 38(11): 1239-41, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17033622
12.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393
13.
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.
Hum Mol Genet
; 20(23): 4693-706, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852249
14.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Am J Med Genet A
; 161A(12): 2972-80, 2013 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214728
15.
Genome-wide association study identifies novel breast cancer susceptibility loci.
Nature
; 447(7148): 1087-93, 2007 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17529967
16.
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Nat Genet
; 31(1): 55-9, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11967536
17.
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.
Fam Cancer
; 22(2): 135-149, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029389
18.
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.
Breast Cancer Res Treat
; 134(1): 429-33, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527104
19.
Exploring the link between MORF4L1 and risk of breast cancer.
Breast Cancer Res
; 13(2): R40, 2011 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21466675
20.
Mutation and association analysis of GEN1 in breast cancer susceptibility.
Breast Cancer Res Treat
; 124(1): 283-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20512659