Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
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.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
4.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
5.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
6.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
7.
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Genet Med
; 23(8): 1492-1497, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33911214
8.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
9.
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Eur J Hum Genet
; 31(10): 1154-1164, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460657
10.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031187
11.
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Genes (Basel)
; 14(1)2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672771
12.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
13.
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Sci Rep
; 12(1): 13507, 2022 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931711
14.
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Neurology
; 96(11): e1539-e1550, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504645