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.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
3.
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
4.
Rare variants in axonogenesis genes connect three families with sound-color synesthesia.
Proc Natl Acad Sci U S A
; 115(12): 3168-3173, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507195
5.
Toward Robust Functional Neuroimaging Genetics of Cognition.
J Neurosci
; 39(44): 8778-8787, 2019 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570534
6.
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
Hum Mol Genet
; 27(7): 1212-1227, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365100
7.
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Mol Psychiatry
; 24(7): 1065-1078, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463886
8.
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Hum Mol Genet
; 25(3): 546-57, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647308
9.
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
Hum Mol Genet
; 2018 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29947777
10.
Prevalence of Borrelia burgdorferi infection in a series of 98 primary cutaneous lymphomas.
Oncologist
; 16(11): 1582-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22071292
11.
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
12.
A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.
PLoS One
; 11(6): e0158036, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27351196
13.
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
Eur J Hum Genet
; 23(12): 1702-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25853299
14.
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