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.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
3.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
4.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088023
5.
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.
BMC Genomics
; 24(1): 206, 2023 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072692
6.
Periventricular heterotopia in a male child with USP9X missense variant.
Am J Med Genet A
; 191(5): 1350-1354, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680497
7.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
8.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488810
9.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533184
10.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
11.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
12.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Am J Med Genet A
; 188(10): 3032-3040, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876338
13.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
14.
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
15.
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Clin Genet
; 100(5): 607-614, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296759
16.
Expansion of the phenotype of lateral meningocele syndrome.
Am J Med Genet A
; 182(5): 1259-1262, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141180
17.
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.
Int J Mol Sci
; 21(17)2020 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32872468
18.
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
Cerebellum
; 18(5): 972-975, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410782
19.
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.
Am J Hum Genet
; 97(1): 67-74, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26054435
20.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Am J Med Genet A
; 176(2): 426-430, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230941