Search details
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38387458
2.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38772379
3.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38118446
4.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-37944084
5.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35907405
6.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Article
in English
| MEDLINE | ID: mdl-38456468
7.
Identification of an epilepsy-linked gut microbiota signature in a pediatric rat model of acquired epilepsy.
Neurobiol Dis
; 194: 106469, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38485093
8.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Article
in English
| MEDLINE | ID: mdl-34800363
9.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33798445
10.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38158856
11.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37062836
12.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Ann Neurol
; 94(5): 825-835, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37597255
13.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38088023
14.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37647852
15.
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.
J Med Genet
; 60(3): 223-232, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35595279
16.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37183190
17.
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Biochem Biophys Res Commun
; 673: 131-136, 2023 09 17.
Article
in English
| MEDLINE | ID: mdl-37385007
18.
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.
Article
in English
| MEDLINE | ID: mdl-36399134
19.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37191084
20.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-35218524