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.
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
3.
Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine.
Immunol Rev
; 322(1): 5-14, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308392
4.
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Proc Natl Acad Sci U S A
; 116(3): 950-959, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591557
5.
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
6.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Proc Natl Acad Sci U S A
; 115(34): E8007-E8016, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072435
7.
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Proc Natl Acad Sci U S A
; 112(17): 5473-8, 2015 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25827230
8.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A
; 112(44): 13615-20, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483451
9.
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis.
J Clin Immunol
; 42(7): 1354-1359, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207567
10.
Exome and genome sequencing for inborn errors of immunity.
J Allergy Clin Immunol
; 138(4): 957-969, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27720020
11.
A 44-Year-Old Female With Overwhelming Sepsis.
Clin Infect Dis
; 68(4): 712, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30165619
12.
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
JAMA Oncol
; 10(2): 236-239, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153744
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.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
HGG Adv
; : 100300, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678364
15.
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Science
; 383(6686): eadh4059, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422122
16.
Whole-exome-sequencing-based discovery of human FADD deficiency.
Am J Hum Genet
; 87(6): 873-81, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109225
17.
Lack of association between HLA and asymptomatic SARS-CoV-2 infection.
medRxiv
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168184
18.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med
; 15(1): 22, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020259
19.
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record.
Front Genet
; 13: 866169, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571025
20.
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