272 related articles for article (PubMed ID: 33942434)
1. Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV; Khan M; Roosing S; Cremers FPM; 't Hoen PAC
Hum Mutat; 2021 Jul; 42(7):799-810. PubMed ID: 33942434
[TBL] [Abstract][Full Text] [Related]
2. Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Fadaie Z; Khan M; Del Pozo-Valero M; Cornelis SS; Ayuso C; Cremers FPM; Roosing S; The Abca Study Group
Hum Mutat; 2019 Dec; 40(12):2365-2376. PubMed ID: 31397521
[TBL] [Abstract][Full Text] [Related]
3. Comparison of
Jang W; Park J; Chae H; Kim M
Int J Genomics; 2022; 2022():5265686. PubMed ID: 36275637
[TBL] [Abstract][Full Text] [Related]
4. Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Smith C; Kitzman JO
Genome Biol; 2023 Dec; 24(1):294. PubMed ID: 38129864
[TBL] [Abstract][Full Text] [Related]
5. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Hiraide T; Shimizu K; Okumura Y; Miyamoto S; Nakashima M; Ogata T; Saitsu H
J Hum Genet; 2023 Jul; 68(7):499-505. PubMed ID: 36894704
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.
Strauch Y; Lord J; Niranjan M; Baralle D
PLoS One; 2022; 17(6):e0269159. PubMed ID: 35657932
[TBL] [Abstract][Full Text] [Related]
8.
Sangermano R; Khan M; Cornelis SS; Richelle V; Albert S; Garanto A; Elmelik D; Qamar R; Lugtenberg D; van den Born LI; Collin RWJ; Cremers FPM
Genome Res; 2018 Jan; 28(1):100-110. PubMed ID: 29162642
[TBL] [Abstract][Full Text] [Related]
9. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano R; Garanto A; Khan M; Runhart EH; Bauwens M; Bax NM; van den Born LI; Khan MI; Cornelis SS; Verheij JBGM; Pott JR; Thiadens AAHJ; Klaver CCW; Puech B; Meunier I; Naessens S; Arno G; Fakin A; Carss KJ; Raymond FL; Webster AR; Dhaenens CM; Stöhr H; Grassmann F; Weber BHF; Hoyng CB; De Baere E; Albert S; Collin RWJ; Cremers FPM
Genet Med; 2019 Aug; 21(8):1751-1760. PubMed ID: 30643219
[TBL] [Abstract][Full Text] [Related]
10. Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M; Cornelis SS; Khan MI; Elmelik D; Manders E; Bakker S; Derks R; Neveling K; van de Vorst M; Gilissen C; Meunier I; Defoort S; Puech B; Devos A; Schulz HL; Stöhr H; Grassmann F; Weber BHF; Dhaenens CM; Cremers FPM
Hum Mutat; 2019 Oct; 40(10):1749-1759. PubMed ID: 31212395
[TBL] [Abstract][Full Text] [Related]
11. Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ; Gayevskiy V; Davis RL; Wong M; Mayoh C; Mallawaarachchi A; Hort Y; McCabe MJ; Beecroft S; Jackson MR; Arts P; Dubowsky A; Laing N; Dinger ME; Scott HS; Oates E; Pinese M; Cowley MJ
Genome Biol; 2023 May; 24(1):118. PubMed ID: 37198692
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Clinical Characteristics of
Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
[TBL] [Abstract][Full Text] [Related]
14.
Rodríguez-Hidalgo M; de Bruijn SE; Corradi Z; Rodenburg K; Lara-López A; Valverde-Megías A; Ávila-Fernández A; Fernandez-Caballero L; Del Pozo-Valero M; Corominas J; Gilissen C; Irigoyen C; Cremers FPM; Ayuso C; Ruiz-Ederra J; Roosing S
Front Genet; 2023; 14():1234032. PubMed ID: 37779911
[No Abstract] [Full Text] [Related]
15. QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.
Kaltak M; de Bruijn P; van Leeuwen W; Platenburg G; Cremers FPM; Collin RWJ; Swildens J
Sci Rep; 2024 Jan; 14(1):684. PubMed ID: 38182646
[TBL] [Abstract][Full Text] [Related]
16. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R; Parfait B; Vidaud D; Girodon E; Pacot L; Le Gac G; Ka C; Ferec C; Fichou Y; Quesnelle C; Aucouturier C; Muller E; Vaur D; Castera L; Boulouard F; Ricou A; Tubeuf H; Soukarieh O; Gaildrat P; Riant F; Guillaud-Bataille M; Caputo SM; Caux-Moncoutier V; Boutry-Kryza N; Bonnet-Dorion F; Schultz I; Rossing M; Quenez O; Goldenberg L; Harter V; Parsons MT; Spurdle AB; Frébourg T; Martins A; Houdayer C; Krieger S
Hum Mutat; 2022 Dec; 43(12):2308-2323. PubMed ID: 36273432
[TBL] [Abstract][Full Text] [Related]
17. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.
Rentzsch P; Schubach M; Shendure J; Kircher M
Genome Med; 2021 Feb; 13(1):31. PubMed ID: 33618777
[TBL] [Abstract][Full Text] [Related]
18. Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing.
Chiang HL; Chen YT; Su JY; Lin HN; Yu CA; Hung YJ; Wang YL; Huang YT; Lin CL
Nat Struct Mol Biol; 2022 Nov; 29(11):1043-1055. PubMed ID: 36303034
[TBL] [Abstract][Full Text] [Related]
19. Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework.
Liu H; Dai J; Li K; Sun Y; Wei H; Wang H; Zhao C; Wang DW
Brief Bioinform; 2022 Sep; 23(5):. PubMed ID: 35976049
[TBL] [Abstract][Full Text] [Related]
20. Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in
Tomkiewicz TZ; Suárez-Herrera N; Cremers FPM; Collin RWJ; Garanto A
Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33924840
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
