Detalhe da pesquisa
1.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
2.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033404
3.
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
J Med Genet
; 56(6): 347-357, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962250
4.
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Lancet Oncol
; 19(2): 169-180, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29337092
5.
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
J Med Genet
; 53(11): 735-742, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27418539
6.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
7.
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
JCO Precis Oncol
; 42020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923877
8.
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
J Pathol Clin Res
; 6(2): 146-153, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022473
9.
Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.
JAMA Oncol
; 5(1): 58-59, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30128501