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1.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34007000
2.
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Proc Natl Acad Sci U S A
; 115(2): 379-384, 2018 01 09.
Article
in English
| MEDLINE | ID: mdl-29279374
3.
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Genet Med
; 21(1): 114-123, 2019 01.
Article
in English
| MEDLINE | ID: mdl-29895855
4.
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
Cancer
; 124(8): 1691-1700, 2018 04 15.
Article
in English
| MEDLINE | ID: mdl-29360161
5.
Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 20(2): 282, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29215652
6.
Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
Ann Surg Oncol
; 25(10): 2925-2931, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-29998407
7.
Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 19(10): 1118-1126, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28569743
8.
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.
Am J Hum Genet
; 91(4): 660-71, 2012 Oct 05.
Article
in English
| MEDLINE | ID: mdl-23040495
9.
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia.
N Engl J Med
; 367(9): 826-33, 2012 Aug 30.
Article
in English
| MEDLINE | ID: mdl-22931316
10.
Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.
PLoS Genet
; 8(4): e1002621, 2012.
Article
in English
| MEDLINE | ID: mdl-22511877
11.
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors.
J Mol Diagn
; 25(7): 411-427, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37207865
12.
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Cancers (Basel)
; 14(10)2022 May 13.
Article
in English
| MEDLINE | ID: mdl-35626031
13.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nat Biotechnol
; 40(5): 672-680, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35132260
14.
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
JAMA Netw Open
; 3(10): e2019452, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-33026450
15.
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.
J Mol Diagn
; 21(2): 318-329, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30610921
16.
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
J Mol Diagn
; 20(1): 4-27, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29154853
17.
DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.
Pac Symp Biocomput
; 22: 166-176, 2017.
Article
in English
| MEDLINE | ID: mdl-27896972
18.
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Genome Med
; 9(1): 13, 2017 02 06.
Article
in English
| MEDLINE | ID: mdl-28166811
19.
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.
JCO Precis Oncol
; 12017 Jul.
Article
in English
| MEDLINE | ID: mdl-28782058
20.
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.
NPJ Genom Med
; 1: 16015, 2016.
Article
in English
| MEDLINE | ID: mdl-29263814