Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
3.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
4.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
5.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
6.
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
J Med Genet
; 57(4): 226-236, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719169
7.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100083
8.
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
9.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
10.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565421
11.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Epilepsia
; 58(4): 565-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28166369
12.
Clinical and genetic aspects of KBG syndrome.
Am J Med Genet A
; 170(11): 2835-2846, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667800
13.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925750
14.
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services.
Breast Cancer Res
; 16(5): 442, 2014 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25510853
15.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393
16.
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
BMC Med Genet
; 14: 48, 2013 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23621912
17.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clin Endocrinol (Oxf)
; 78(6): 898-906, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23072324
18.
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Nat Commun
; 14(1): 3636, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336879
19.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
J Clin Invest
; 132(13)2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617047
20.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093