Detalhe da pesquisa
1.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
2.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Neuron
; 111(18): 2800-2810.e5, 2023 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463579
3.
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population.
Fam Cancer
; 21(2): 167-180, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33754278
4.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism
; 12(1): 69, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702355
5.
Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study.
AJOB Empir Bioeth
; 12(1): 1-11, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32981477