Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
4.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
5.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
J Clin Immunol
; 42(5): 962-974, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320431
6.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
7.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
8.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
9.
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
Am J Med Genet A
; 185(2): 571-574, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247988
10.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
11.
Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature.
Am J Med Genet A
; 182(10): 2437-2441, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830419
12.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
13.
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A
; 179(7): 1276-1286, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124279
14.
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.
Am J Med Genet A
; 191(9): 2451-2453, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596899
15.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Prenat Diagn
; 38(13): 1120-1128, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334587
16.
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Genet Med
; 17(11): 843-53, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25719457
17.
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
Am J Med Genet A
; 182(3): 591-594, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31859446
18.
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
Heliyon
; 10(1): e23746, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192810
19.
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
Eur J Paediatr Neurol
; 48: 46-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039826
20.
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
Am J Med Genet A
; 161A(6): 1376-80, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613326