Detalhe da pesquisa
1.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
2.
Shared heritability of human face and brain shape.
Nat Genet
; 53(6): 830-839, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33821002
3.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 4932, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004838
4.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 5398, 2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087701
5.
A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.
Clin Dysmorphol
; 29(4): 210-213, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32639238