Detalhe da pesquisa
1.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
2.
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021934
3.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
4.
The splicing effect of variants at branchpoint elements in cancer genes.
Genet Med
; 24(2): 398-409, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906448
5.
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Hum Mutat
; 41(10): 1705-1721, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623769
6.
The splicing effect of variants at branchpoint elements in cancer genes.
Genet Med
; 25(1): 166, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609150
7.
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Hum Mutat
; 43(12): 2328, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448424
8.
Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.
HGG Adv
; 4(2): 100185, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36908940
9.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865205
10.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723522
11.
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
JIMD Rep
; 48(1): 60-66, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392114
12.
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Orphanet J Rare Dis
; 12(1): 7, 2017 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077157
13.
Mutational analysis of the GALT gene in Filipino patients.
Kobe J Med Sci
; 59(3): E106-11, 2013 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24045215