Detalhe da pesquisa
1.
Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States.
Cell
; 184(10): 2587-2594.e7, 2021 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861950
2.
SARS-CoV-2 Antiviral Prescribing Gaps Among Non-Hospitalized High-Risk Adults.
Clin Infect Dis
; 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170452
3.
Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.
Genet Med
; 25(4): 100012, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637017
4.
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.
Genet Med
; 23(12): 2300-2308, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385667
5.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
; 99(3): 595-606, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569544
6.
Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world.
J Genet Couns
; 28(2): 456-465, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964579
7.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
Am J Hum Genet
; 97(1): 111-24, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119816
8.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
9.
Use of model organism and disease databases to support matchmaking for human disease gene discovery.
Hum Mutat
; 36(10): 979-84, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269093
10.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251998
11.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26295439
12.
modMine: flexible access to modENCODE data.
Nucleic Acids Res
; 40(Database issue): D1082-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22080565
13.
A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein.
HGG Adv
; 5(3): 100284, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509709
14.
Linking human diseases to animal models using ontology-based phenotype annotation.
PLoS Biol
; 7(11): e1000247, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19956802
15.
HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.
HGG Adv
; 3(2): 100084, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005651
16.
SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads.
Cell Rep Med
; 3(3): 100564, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474739
17.
Evidence for SARS-CoV-2 Delta and Omicron co-infections and recombination.
Med
; 3(12): 848-859.e4, 2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332633
18.
Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations.
Clin Pharmacol Ther
; 110(3): 759-767, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930192
19.
Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.
Front Genet
; 12: 639418, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763119
20.
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
PLoS One
; 16(8): e0255402, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379666