Detalhe da pesquisa
1.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr
; 262: 113620, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473993
2.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
3.
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Hum Genet
; 140(6): 957-967, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745059
4.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 371-380, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481752
5.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 449, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772351
6.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907799
7.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Am J Hematol
; 93(1): 8-16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960434
8.
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
J Pediatr
; 246: 251-265.e2, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314152
9.
Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.
J Assist Reprod Genet
; 31(8): 1065-71, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24913027
10.
EMDataBank.org: unified data resource for CryoEM.
Nucleic Acids Res
; 39(Database issue): D456-64, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20935055
11.
Motion of transfer RNA from the A/T state into the A-site using docking and simulations.
Proteins
; 80(11): 2489-500, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22730134
12.
Hospitalizations Associated With Mental Health Conditions Among Adolescents in the US and France During the COVID-19 Pandemic.
JAMA Netw Open
; 5(12): e2246548, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512353
13.
International Analysis of Electronic Health Records of Children and Youth Hospitalized With COVID-19 Infection in 6 Countries.
JAMA Netw Open
; 4(6): e2112596, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115127
14.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr
; 175(12): 1218-1226, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570182
15.
International Comparisons of Harmonized Laboratory Value Trajectories to Predict Severe COVID-19: Leveraging the 4CE Collaborative Across 342 Hospitals and 6 Countries: A Retrospective Cohort Study.
medRxiv
; 2021 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564777
16.
A Centralized Approach for Practicing Genomic Medicine.
Pediatrics
; 145(3)2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102930
17.
International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium.
NPJ Digit Med
; 3: 109, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32864472
18.
Viral assembly: a molecular modeling perspective.
Phys Chem Chem Phys
; 11(45): 10553-64, 2009 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20145801
19.
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Eur J Hum Genet
; 27(4): 612-620, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626929
20.
YUP.SCX: coaxing atomic models into medium resolution electron density maps.
J Struct Biol
; 163(2): 163-74, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18572416