Detalhe da pesquisa
1.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
2.
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
3.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
4.
Medical and psychosocial outcomes of state-funded population genomic screening.
Clin Genet
; 104(4): 434-442, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340305
5.
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
6.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Genet Med
; 23(2): 280-288, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989269
7.
A state-based approach to genomics for rare disease and population screening.
Genet Med
; 23(4): 777-781, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244164
8.
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
J Genet Couns
; 29(3): 471-478, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220047
9.
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
10.
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
11.
Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.
J Genet Couns
; 28(2): 438-448, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964585
12.
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
13.
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Genet Med
; 19(3): 337-344, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27561086
14.
Return of raw data in genomic testing and research: ownership, partnership, and risk-benefit.
Genet Med
; 22(1): 12-14, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312044
15.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585854
16.
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
17.
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
18.
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
19.
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
20.
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