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.
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
4.
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
5.
Management of Secondary Genomic Findings.
Am J Hum Genet
; 107(1): 3-14, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619490
6.
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
7.
Prioritizing genes for systematic variant effect mapping.
Bioinformatics
; 36(22-23): 5448-5455, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300982
8.
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
9.
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
10.
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
11.
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
12.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
13.
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
14.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014595
15.
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
16.
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
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29998407
18.
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Hum Mol Genet
; 24(7): 1836-42, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432535
19.
Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 19(10): 1118-1126, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28569743
20.
Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects.
J Neural Transm (Vienna)
; 124(6): 721-738, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477284