Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
FGF12 copy number variant associated with epileptic encephalopathy.
Clin Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715525
3.
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Clin Genet
; 104(5): 607-609, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491870
4.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
5.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
6.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941880
7.
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
Hum Mutat
; 41(2): 412-419, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660686
8.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Hum Genet
; 138(11-12): 1409-1417, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748968
9.
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Am J Hum Genet
; 98(5): 909-918, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132593
10.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
11.
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Clin Genet
; 96(2): 183-185, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31236915
12.
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Rare
; 22024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770537
13.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells
; 12(10)2023 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408271
14.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Elife
; 122023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648066
15.
Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
J AAPOS
; 25(6): 370-373, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628026
16.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754643
17.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Semin Pediatr Neurol
; 26: 28-32, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961512
18.
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Mol Genet Genomic Med
; 10(2): e1857, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994087
19.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
F1000Res
; 6: 553, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663785
20.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789