Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
3.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
4.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
5.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Mol Med
; 25(1): 6, 2019 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813884
6.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Brain
; 141(7): 1934-1945, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868776
7.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28391250
8.
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Mol Genet Genomic Med
; 11(5): e2148, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785910
9.
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Am J Med Genet A
; 173(5): 1440-1443, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323383
10.
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.
Eur J Med Genet
; 65(12): 104628, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182037
11.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
12.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664714