Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
2.
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Am J Hum Genet
; 110(7): 1110-1122, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369202
3.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Hum Mol Genet
; 32(19): 2857-2871, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369021
4.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
5.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Ann Neurol
; 95(2): 365-376, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964487
6.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
7.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
8.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Bioinformatics
; 39(5)2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104749
9.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
10.
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Brain
; 146(3): 923-934, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036558
11.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Brain
; 146(9): 3885-3897, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37006128
12.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
13.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921875
14.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245260
15.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
16.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
17.
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Ann Neurol
; 92(6): 958-973, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36073542
18.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633442
19.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
20.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048