Detalhe da pesquisa
1.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
2.
Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.
Am J Med Genet A
; 188(10): 3121-3125, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35860951
3.
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome.
Am J Med Genet A
; 185(1): 208-212, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037780
4.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890586
5.
Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
J Genet Couns
; 29(4): 598-606, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227564
6.
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
Hered Cancer Clin Pract
; 17: 19, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341520
7.
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Hum Mutat
; 39(11): 1581-1592, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311380
8.
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
Genet Med
; 20(10): 1167-1174, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29345684
9.
Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
Ann Surg Oncol
; 25(12): 3556-3562, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167906
10.
Germline pathogenic variants identified in women with ovarian tumors.
Gynecol Oncol
; 151(3): 481-488, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322717
11.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genet Med
; 18(8): 823-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681312
12.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Cancer Res
; 83(15): 2557-2571, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253112
13.
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
Cancer Genet
; 266-267: 86-89, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926323
14.
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer.
Fam Cancer
; 21(4): 415-422, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981295
15.
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Clin Cancer Res
; 28(17): 3742-3751, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35736817
16.
In silico and functional studies of the regulation of the glucocerebrosidase gene.
Mol Genet Metab
; 99(3): 275-82, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004604
17.
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
Cancer Genet
; 246-247: 12-17, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805687
18.
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing.
J Mol Diagn
; 22(3): 396-404, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31881331
19.
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.
Fam Cancer
; 18(2): 203-209, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604180
20.
Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
JAMA Oncol
; 5(9): 1325-1331, 2019 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31246251