Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
3.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
4.
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Eur J Pediatr
; 183(1): 345-355, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889289
5.
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
6.
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
7.
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Am J Med Genet A
; 191(7): 1889-1899, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37129290
8.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188164
9.
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
Am J Med Genet A
; 188(12): 3510-3515, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000780
10.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
11.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
12.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Am J Med Genet A
; 185(7): 2037-2045, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847457
13.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
14.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
15.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
16.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190
17.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(3): 669, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844176
18.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067
19.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
20.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924