Detalhe da pesquisa
1.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
2.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
3.
FGF12 copy number variant associated with epileptic encephalopathy.
Clin Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715525
4.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
5.
A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
J Biol Chem
; 298(1): 101438, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34808209
6.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Clin Genet
; 103(2): 167-178, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250278
7.
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
8.
A translational profiling approach for the molecular characterization of CNS cell types.
Cell
; 135(4): 738-48, 2008 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19013281
9.
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
10.
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
11.
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
12.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
13.
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
14.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat
; 41(10): 1738-1744, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643838
15.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
16.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100085
17.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
18.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
19.
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
20.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Brain
; 141(6): 1703-1718, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668857