Detalhe da pesquisa
1.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35065709
2.
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Brain
; 146(7): 2861-2868, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36546557
3.
Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Lancet Oncol
; 24(6): 658-668, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37178708
4.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33910932
5.
Re-evaluation of missense variant classifications in NF2.
Hum Mutat
; 43(5): 643-654, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35332608
6.
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Hum Mol Genet
; 28(22): 3704-3723, 2019 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31304552
7.
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.
Front Immunol
; 14: 1100967, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36949945
8.
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Sci Rep
; 11(1): 20607, 2021 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34663891
9.
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
PLoS One
; 15(7): e0233582, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32735620
10.
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
Cells
; 8(12)2019 11 26.
Artigo
Inglês
| MEDLINE | ID: mdl-31779139