Detalhe da pesquisa
1.
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Hum Mol Genet
; 32(9): 1497-1510, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579832
2.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
3.
Molecular networks of the FOXP2 transcription factor in the brain.
EMBO Rep
; 22(8): e52803, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34260143
4.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
5.
The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour.
Cell Mol Life Sci
; 78(7): 3503-3524, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340069
6.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Genet Med
; 23(3): 534-542, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110267
7.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
; 4(1): 100157, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408368
8.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Nat Genet
; 55(9): 1598-1607, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37550531
9.
Genetic pathways involved in human speech disorders.
Curr Opin Genet Dev
; 65: 103-111, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622339
10.
Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits.
Philos Trans R Soc Lond B Biol Sci
; 374(1787): 20190026, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630655
11.
Functional characterization of TBR1 variants in neurodevelopmental disorder.
Sci Rep
; 8(1): 14279, 2018 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250039
12.
Correction to 'Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits'.
Philos Trans R Soc Lond B Biol Sci
; 375(1795): 20190746, 2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32075566