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.
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Mol Genet Metab
; 137(1-2): 26-32, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35878504
5.
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Am J Med Genet A
; 188(9): 2617-2626, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670295
6.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
7.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
8.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Ann Neurol
; 88(2): 264-273, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342562
9.
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Am J Med Genet A
; 185(8): 2374-2383, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969943
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
N Engl J Med
; 383(10): 986-989, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877590
17.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(10): 1298, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377334
18.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389922
19.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(11): 1486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419820
20.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146