Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
3.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Am J Hum Genet
; 110(10): 1769-1786, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37729906
4.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743207
5.
Shifting landscapes of human MTHFR missense-variant effects.
Am J Hum Genet
; 108(7): 1283-1300, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214447
6.
Applications of artificial intelligence in clinical laboratory genomics.
Am J Med Genet C Semin Med Genet
; 193(3): e32057, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507620
7.
Management of Secondary Genomic Findings.
Am J Hum Genet
; 107(1): 3-14, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619490
8.
Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study.
Clin Gastroenterol Hepatol
; 20(3): e508-e528, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33857637
9.
Prioritizing genes for systematic variant effect mapping.
Bioinformatics
; 36(22-23): 5448-5455, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300982
10.
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
Pediatr Cardiol
; 43(3): 616-623, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714385
11.
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
Hum Mol Genet
; 28(12): 1931-1946, 2019 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590522
12.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
14.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
15.
Challenges in providing residual risks in carrier testing.
Prenat Diagn
; 41(9): 1049-1056, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34057205
16.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet
; 14(12): e1007752, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586411
17.
Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
Pacing Clin Electrophysiol
; 43(2): 210-216, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31899541
18.
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Genet Med
; 21(1): 114-123, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895855
19.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014595
20.
Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 20(2): 282, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215652