Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
2.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
3.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526744
4.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
5.
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
Neurogenetics
; 24(4): 311-316, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668766
6.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
8.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
9.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
10.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
11.
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
12.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
13.
Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review.
Ann Neurol
; 89(5): 860-871, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550625
14.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
15.
Common data elements to standardize genomics studies in cerebral palsy.
Dev Med Child Neurol
; 64(12): 1470-1476, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441707
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385670
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
19.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
J Inherit Metab Dis
; 44(4): 1001-1012, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734437
20.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822