Detalhe da pesquisa
1.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
Hum Mol Genet
; 32(7): 1223-1235, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440963
2.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38362852
3.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
4.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
J Med Genet
; 60(4): 327-336, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137616
5.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231212
6.
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Int J Cancer
; 147(8): 2150-2158, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510614
7.
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS Genet
; 13(5): e1006765, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28531214
8.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490613
9.
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
PLoS Genet
; 12(2): e1005880, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26901136
10.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Hum Mutat
; 39(11): 1553-1568, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311375
11.
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Hum Mutat
; 39(3): 394-405, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215764
12.
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.
Gastroenterology
; 163(6): 1691-1694.e7, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36037994
13.
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Hum Mutat
; 38(2): 226-235, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27767231
14.
Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair-Deficient Lynch-Like Tumors.
Gastroenterology
; 160(4): 1414-1416.e3, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33253688
15.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
16.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem
; 63(2): 503-512, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974384
17.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435373
18.
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
Gastroenterology
; 149(4): 897-906.e19, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072394
19.
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.
J Genet Couns
; 25(3): 504-14, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26531312
20.
The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis.
J Biol Chem
; 289(7): 4244-61, 2014 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24338480