Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Am J Hum Genet
; 110(5): 846-862, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086723
3.
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
4.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
5.
Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence.
Nicotine Tob Res
; 23(12): 2162-2169, 2021 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313775
6.
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Am J Med Genet A
; 164A(9): 2391-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24924585
7.
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
8.
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
9.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993720
10.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
BMJ Open
; 6(4): e009537, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130160
11.
The illusion of specific capture: surface and solution studies of suboptimal oligonucleotide hybridization.
BMC Res Notes
; 6: 72, 2013 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23445545