Detalhe da pesquisa
1.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
2.
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
J Inherit Metab Dis
; 44(4): 949-960, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855712
3.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242881
4.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
5.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
6.
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
7.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(4): 689, 2017 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388435
8.
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Genome Med
; 9(1): 73, 2017 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807008
9.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934986