Detalhe da pesquisa
1.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
2.
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.
Eur J Hum Genet
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38802528
3.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645094
4.
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Nat Genet
; 55(2): 324-332, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747048
5.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
medRxiv
; 2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37745552
6.
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data.
Nat Commun
; 13(1): 1655, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35351883
7.
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
HGG Adv
; 3(4): 100125, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35847480
8.
Pro-inflammatory dopamine-2 receptor-specific T cells in paediatric movement and psychiatric disorders.
Clin Transl Immunology
; 9(12): e1229, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33425355
9.
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.
NPJ Genom Med
; 4: 8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30993004