Detalhe da pesquisa
1.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161864
2.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
3.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
4.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
5.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
6.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
7.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genet Med
; 20(12): 1635-1643, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790872
8.
The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.
Clin Transl Sci
; 17(1): e13635, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38064200
9.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585854
10.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
bioRxiv
; 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711854
11.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
J Pers Med
; 13(7)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511639
12.
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting.
J Pers Med
; 12(3)2022 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35330405
13.
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.
AJOB Empir Bioeth
; 12(3): 179-189, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33843487
14.
Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some.
Ethics Hum Res
; 41(5): 2-15, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541538
15.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664714
16.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Med
; 9(1): 43, 2017 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28554332