Detalhe da pesquisa
1.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413997
2.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
3.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182917
4.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med
; 23(4): 705-712, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257847
5.
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genet Med
; 22(5): 847-856, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965077
6.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690931
7.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(1): 15-25, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337882
8.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523343
9.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929
10.
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Genet Med
; 20(9): 1054-1060, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300386
11.
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Hum Mutat
; 37(6): 564-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931183
12.
Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.
Dig Dis Sci
; 61(10): 2887-2895, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384051
13.
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.
Hum Mutat
; 35(4): 505-10, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470180
14.
Spindle microtubule dysfunction and cancer predisposition.
J Cell Physiol
; 229(12): 1881-3, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24905602
15.
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
medRxiv
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496501
16.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746299
17.
Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society.
Hum Mutat
; 39(3): 454-458, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282786
18.
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Hum Mutat
; 34(1): 255-65, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949387
19.
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.
Hum Mutat
; 34(4): 661-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401191
20.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
EClinicalMedicine
; 58: 101909, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181409