Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
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.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
4.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
5.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Am J Hum Genet
; 109(10): 1885-1893, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103875
6.
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
7.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
8.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
9.
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
10.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
11.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
12.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
13.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
14.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
15.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
16.
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
17.
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
18.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202461
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.
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Hum Mutat
; 43(12): 1795-1807, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998261