Detalhe da pesquisa
1.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128548
2.
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Genet Med
; 25(1): 151-154, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609147
3.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
4.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932216
5.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
6.
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Nat Med
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693247
7.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682
8.
Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.
J Neurosci
; 32(11): 3697-711, 2012 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22423091
9.
Cerebral palsy and genomics: an international consortium.
Dev Med Child Neurol
; 60(2): 209-210, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336076
10.
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
JAMA Pediatr
; 177(5): 472-478, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36877506
11.
Management of dynamic cervical kyphosis with dorsal epidural lipomatosis: a Hirayama disease variant? Illustrative case.
J Neurosurg Case Lessons
; 5(10)2023 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880508
12.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
JAMA Netw Open
; 6(11): e2343384, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991765
13.
Human genetics and molecular genomics of Chiari malformation type 1.
Trends Mol Med
; 29(12): 1059-1075, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802664
14.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879130
15.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993720
16.
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
17.
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
J Med Genet
; 48(2): 141-4, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972249
18.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Ann Clin Transl Neurol
; 9(9): 1345-1358, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880319
19.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512
20.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Nat Neurosci
; 25(4): 458-473, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379995