Detalhe da pesquisa
1.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
2.
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Nat Neurosci
; 24(2): 176-185, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432195
3.
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Neuron
; 109(20): 3239-3251.e7, 2021 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478631
4.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Nat Neurosci
; 26(10): 1833, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644260
5.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Nat Neurosci
; 24(4): 611, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753946