Search details
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37467750
2.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37647852
3.
Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study.
J Genet Couns
; 32(6): 1161-1173, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37194122
4.
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Am J Hum Genet
; 103(3): 358-366, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30122538
5.
Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort.
Genet Med
; 21(6): 1355-1362, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30382154
6.
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Front Neurosci
; 17: 1216653, 2023.
Article
in English
| MEDLINE | ID: mdl-37662110
7.
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.
J Pers Med
; 11(5)2021 May 01.
Article
in English
| MEDLINE | ID: mdl-34062946
8.
A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.
Eur J Hum Genet
; 26(5): 622-630, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29453419
9.
Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.
JAMA Intern Med
; 178(3): 338-346, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29356820
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