Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
3.
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Acta Neuropathol
; 147(1): 64, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556574
4.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
5.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
6.
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
7.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
8.
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
9.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
10.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
11.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
12.
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kidney Int
; 95(6): 1494-1504, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005274
13.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
14.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
15.
Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.
Blood
; 132(13): 1455-1458, 2018 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111608
16.
[The importance of early recognition of Prader-Willi syndrome]. / Het Prader-Willi-syndroom.
Ned Tijdschr Geneeskd
; 1682024 May 08.
Artigo
em Holandês
| MEDLINE | ID: mdl-38747584
17.
A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.
Clin Neuropsychiatry
; 20(5): 424-428, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-38089737
18.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Eur J Hum Genet
; 31(1): 81-88, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114283
19.
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.
Am J Med Genet A
; 158A(6): 1326-36, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585395
20.
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Eur J Hum Genet
; 30(3): 271-281, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521999