Detalhe da pesquisa
1.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Am J Hum Genet
; 108(12): 2248-2258, 2021 12 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34793697
2.
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.
Breast Cancer Res Treat
; 200(1): 63-72, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-36856935
3.
Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
Cancer
; 128(6): 1275-1283, 2022 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34875721
4.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906457
5.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27181684
6.
Correction to: Pathogenic variants among females with breast cancer and a nonbreast cancer reveal opportunities for cancer interception.
Breast Cancer Res Treat
; 200(1): 73, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37178433
7.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27392081
8.
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect.
bioRxiv
; 2023 Oct 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37905042
9.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37609227
10.
Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial.
JCO Oncol Pract
; 19(11): 1069-1079, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37733980
11.
Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
JCO Precis Oncol
; 6: e2200234, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35666082
12.
Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes.
JCO Precis Oncol
; 5: 1568-1578, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34994643
13.
Evaluation of the monitor cursor-line method for measuring pulmonary artery and central venous pressures.
Am J Crit Care
; 19(6): 511-21, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21041196