365 related articles for article (PubMed ID: 28714225)
21. A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions.
Chong R; Insigne KD; Yao D; Burghard CP; Wang J; Hsiao YE; Jones EM; Goodman DB; Xiao X; Kosuri S
Mol Cell; 2019 Jan; 73(1):183-194.e8. PubMed ID: 30503770
[TBL] [Abstract][Full Text] [Related]
22. All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E; Horinouchi T; Yamamura T; Aoto Y; Suzuki R; Ichikawa Y; Tanaka Y; Masuda C; Kitakado H; Kondo A; Sakakibara N; Ishiko S; Nagano C; Ishimori S; Usui J; Yamagata K; Matsuo M; Nozu K
Clin Exp Nephrol; 2023 Sep; 27(9):737-746. PubMed ID: 37254000
[TBL] [Abstract][Full Text] [Related]
23. Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N; Zou M; BinEssa HA; Abdi S; Al-Enezi AF; Meyer BF; Alzahrani AS; Shi Y
J Clin Endocrinol Metab; 2022 Feb; 107(3):e1263-e1276. PubMed ID: 34632506
[TBL] [Abstract][Full Text] [Related]
24. Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
Rowlands CF; Baralle D; Ellingford JM
Cells; 2019 Nov; 8(12):. PubMed ID: 31779139
[TBL] [Abstract][Full Text] [Related]
25. Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the young.
Tiulpakov A; Zubkova N; Makretskaya N; Krasnova TS; Melnikova AI; Fedyaeva AS; Vasilyev E; Petrov VM; Rubtsov PM
Hum Mutat; 2020 Jan; 41(1):129-132. PubMed ID: 31529753
[TBL] [Abstract][Full Text] [Related]
26. VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP; Bartoli M; Delague V; Krahn M; Miltgen M; Béroud C; Salgado D
Nucleic Acids Res; 2018 Jul; 46(W1):W545-W553. PubMed ID: 29860484
[TBL] [Abstract][Full Text] [Related]
27. Reticular dysgenesis caused by an intronic pathogenic variant in
Ichikawa S; Prockop S; Cunningham-Rundles C; Sifers T; Conner BR; Wu S; Karam R; Walsh MF; Fiala E
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532877
[TBL] [Abstract][Full Text] [Related]
28. Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Lee J; Jeong H; Won D; Shin S; Lee ST; Choi JR; Byeon SH; Kuht HJ; Thomas MG; Han J
Transl Vis Sci Technol; 2022 Jun; 11(6):25. PubMed ID: 35762937
[TBL] [Abstract][Full Text] [Related]
29. Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M; Nakken S; Tubeuf H; Vodak D; Ekstrøm PO; Nissen AM; Morak M; Holinski-Feder E; Martins A; Møller P; Hovig E
BMC Med Genet; 2018 Feb; 19(1):26. PubMed ID: 29458332
[TBL] [Abstract][Full Text] [Related]
30. Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Dragoš VŠ; Strojnik K; Klančar G; Škerl P; Stegel V; Blatnik A; Banjac M; Krajc M; Novaković S
Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806449
[TBL] [Abstract][Full Text] [Related]
31. Rules and tools to predict the splicing effects of exonic and intronic mutations.
Ohno K; Takeda JI; Masuda A
Wiley Interdiscip Rev RNA; 2018 Jan; 9(1):. PubMed ID: 28949076
[TBL] [Abstract][Full Text] [Related]
32. Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCN.
Zhang X; Cai M; Ma Y; Chen J; Huang S; Cai M; Ding Y; Ma D; Gao Q; Hu X; Zhu C; Yi L
J Mol Diagn; 2023 Feb; 25(2):110-120. PubMed ID: 36410626
[TBL] [Abstract][Full Text] [Related]
33. Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
Mauro-Herrera M; Chiang J; Radojevic B; Bennett LD
Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34209753
[TBL] [Abstract][Full Text] [Related]
34. Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Muñoz A; Liquori A; García-Bohorquez B; Jaijo T; Aller E; Millán JM; García-García G
Sci Rep; 2022 Jan; 12(1):68. PubMed ID: 34996991
[TBL] [Abstract][Full Text] [Related]
35. Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK; Liss A; Holcomb D; Katagiri NH; Hunt R; Bar H; Ismail A; Komar AA; Kimchi-Sarfaty C
Mol Genet Genomic Med; 2019 Aug; 7(8):e840. PubMed ID: 31257730
[TBL] [Abstract][Full Text] [Related]
36. Understanding human DNA variants affecting pre-mRNA splicing in the NGS era.
Dufner-Almeida LG; do Carmo RT; Masotti C; Haddad LA
Adv Genet; 2019; 103():39-90. PubMed ID: 30904096
[TBL] [Abstract][Full Text] [Related]
37. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
[TBL] [Abstract][Full Text] [Related]
38. Ranking noncanonical 5' splice site usage by genome-wide RNA-seq analysis and splicing reporter assays.
Erkelenz S; Theiss S; Kaisers W; Ptok J; Walotka L; Müller L; Hillebrand F; Brillen AL; Sladek M; Schaal H
Genome Res; 2018 Dec; 28(12):1826-1840. PubMed ID: 30355602
[TBL] [Abstract][Full Text] [Related]
39. Skipping Nonsense to Maintain Function: The Paradigm of
Meulemans L; Mesman RLS; Caputo SM; Krieger S; Guillaud-Bataille M; Caux-Moncoutier V; Léone M; Boutry-Kryza N; Sokolowska J; Révillion F; Delnatte C; Tubeuf H; Soukarieh O; Bonnet-Dorion F; Guibert V; Bronner M; Bourdon V; Lizard S; Vilquin P; Privat M; Drouet A; Grout C; Calléja FMGR; Golmard L; Vrieling H; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Vreeswijk MPG; Martins A; Gaildrat P
Cancer Res; 2020 Apr; 80(7):1374-1386. PubMed ID: 32046981
[TBL] [Abstract][Full Text] [Related]
40. Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using
Tubeuf H; Caputo SM; Sullivan T; Rondeaux J; Krieger S; Caux-Moncoutier V; Hauchard J; Castelain G; Fiévet A; Meulemans L; Révillion F; Léoné M; Boutry-Kryza N; Delnatte C; Guillaud-Bataille M; Cleveland L; Reid S; Southon E; Soukarieh O; Drouet A; Di Giacomo D; Vezain M; Bonnet-Dorion F; Bourdon V; Larbre H; Muller D; Pujol P; Vaz F; Audebert-Bellanger S; Colas C; Venat-Bouvet L; Solano AR; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Gaildrat P; Sharan SK; Martins A
Cancer Res; 2020 Sep; 80(17):3593-3605. PubMed ID: 32641407
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
