Search details
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Article
in English
| MEDLINE | ID: mdl-37531237
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-35108495
3.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Article
in English
| MEDLINE | ID: mdl-37713627
4.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Article
in English
| MEDLINE | ID: mdl-35604360
5.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
6.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37606373
7.
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
Neurogenetics
; 24(4): 311-316, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37668766
8.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32707086
9.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37165955
10.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36224108
11.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34954817
12.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35471564
13.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Article
in English
| MEDLINE | ID: mdl-35202461
14.
Interactive effect of silicon and nitric oxide effectively contracts copper toxicity in Salvia officinalis L.
Int J Phytoremediation
; 25(13): 1801-1809, 2023.
Article
in English
| MEDLINE | ID: mdl-37038608
15.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36083290
16.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34596301
17.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
18.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30343943
19.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Genet Med
; 23(12): 2455-2460, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34385670
20.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33239752