Detalhe da pesquisa
1.
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
PLoS Genet
; 18(1): e1009884, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051175
2.
Residue-by-Residue View of In Vitro FUS Granules that Bind the C-Terminal Domain of RNA Polymerase II.
Mol Cell
; 60(2): 231-41, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26455390
3.
Hereditary cancer genes are highly susceptible to splicing mutations.
PLoS Genet
; 14(3): e1007231, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29505604
4.
Future directions for high-throughput splicing assays in precision medicine.
Hum Mutat
; 40(9): 1225-1234, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31297895
5.
Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness.
Mol Med
; 24(1): 32, 2018 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134817
6.
The effects of structure on pre-mRNA processing and stability.
Methods
; 125: 36-44, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595983
7.
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Hum Genet
; 136(9): 1303-1312, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780672
8.
Mutational bias and the protein code shape the evolution of splicing enhancers.
Nat Commun
; 11(1): 2845, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504065
9.
Pathogenic variants that alter protein code often disrupt splicing.
Nat Genet
; 49(6): 848-855, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416821