Detalhe da pesquisa
1.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154813
2.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Eur J Hum Genet
; 32(5): 479-488, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443545
3.
Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity.
Ir J Med Sci
; 192(4): 1607-1611, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260241
4.
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Hum Mutat
; 31(4): 421-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052766
5.
Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.
Cancer Genet
; 214-215: 1-8, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595730
6.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Eur J Hum Genet
; 14(5): 567-76, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16493442
7.
Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.
Cancer Genet
; 208(9): 455-63, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26250988
8.
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
FEBS J
; 282(17): 3424-37, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094658
9.
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Hum Mutat
; 22(1): 105, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12815607
10.
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Fam Cancer
; 11(3): 509-18, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773173
11.
When good CF tests go bad.
Eur J Hum Genet
; 17(4): 403-5, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19050722