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.
Alkoxycarbonyl Groups in Metalloesters Showing Oxocarbenium-like Structure and Alkylating Reactivity.
Angew Chem Int Ed Engl
; 63(20): e202402370, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38426853
3.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
4.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
5.
Considerations in assessing germline variant pathogenicity using cosegregation analysis.
Genet Med
; 22(12): 2052-2059, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773770
6.
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genet Med
; 21(1): 71-80, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884841
7.
Germline mutations in PPFIBP2 are associated with lethal prostate cancer.
Prostate
; 78(16): 1222-1228, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043417
8.
PERCH: A Unified Framework for Disease Gene Prioritization.
Hum Mutat
; 38(3): 243-251, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27995669
9.
Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab.
Genet Med
; 19(1): 30-35, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171545
10.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
J Med Genet
; 53(1): 34-42, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26534844
11.
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
J Med Genet
; 52(5): 348-52, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691505
12.
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
Nucleic Acids Res
; 42(14): 9121-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25034697
13.
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
Am J Hum Genet
; 90(5): 796-808, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521419
14.
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
Clin Genet
; 97(6): 943-944, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424863
15.
PAPRIKA: A Question Bank for Assessing Psoriatic Arthritis Risk in Individuals of Diverse Ancestries.
Arthritis Care Res (Hoboken)
; 76(3): 421-425, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691268
16.
Measuring Psoriasis Severity at Home.
J Vis Exp
; (205)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497631
17.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412388
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.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Res
; 15(3): 402, 2013 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23809231
20.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
J Med Genet
; 49(8): 525-32, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889855