Detalhe da pesquisa
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
2.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
3.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
4.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Am J Med Genet A
; 185(6): 1700-1711, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751773
5.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190
6.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(3): 669, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844176
7.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041561
8.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
9.
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Am J Hum Genet
; 96(3): 507-13, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728777
10.
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Mol Genet Metab
; 122(3): 130-133, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28919002
11.
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
Am J Med Genet A
; 167A(12): 3091-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26198585
12.
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Am J Med Genet A
; 161A(8): 1929-39, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804593
13.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Pediatr Neurol
; 126: 65-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740135
14.
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
JAMA Netw Open
; 2(4): e192129, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977854
15.
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Mol Genet Genomic Med
; 4(6): 599-603, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896282