BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 37878682)

  • 21. 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]  

  • 22. Screening of
    Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
    J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in
    Tamayo A; Núñez-Moreno G; Ruiz C; Plaisancie J; Damian A; Moya J; Chassaing N; Calvas P; Ayuso C; Minguez P; Corton M
    Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675087
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
    Holla ØL; Nakken S; Mattingsdal M; Ranheim T; Berge KE; Defesche JC; Leren TP
    Mol Genet Metab; 2009 Apr; 96(4):245-52. PubMed ID: 19208450
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
    Qian X; Wang J; Wang M; Igelman AD; Jones KD; Li Y; Wang K; Goetz KE; Birch DG; Yang P; Pennesi ME; Chen R
    Front Genet; 2021; 12():647400. PubMed ID: 33737949
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
    Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
    PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Toward a clinical diagnostic pipeline for SPINK1 intronic variants.
    Tang XY; Lin JH; Zou WB; Masson E; Boulling A; Deng SJ; Cooper DN; Liao Z; Férec C; Li ZS; Chen JM
    Hum Genomics; 2019 Feb; 13(1):8. PubMed ID: 30755276
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
    Albert S; Garanto A; Sangermano R; Khan M; Bax NM; Hoyng CB; Zernant J; Lee W; Allikmets R; Collin RWJ; Cremers FPM
    Am J Hum Genet; 2018 Apr; 102(4):517-527. PubMed ID: 29526278
    [TBL] [Abstract][Full Text] [Related]  

  • 31. In silico prioritization and further functional characterization of SPINK1 intronic variants.
    Zou WB; Wu H; Boulling A; Cooper DN; Li ZS; Liao Z; Chen JM; Férec C
    Hum Genomics; 2017 May; 11(1):7. PubMed ID: 28472998
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Comparison of
    Jang W; Park J; Chae H; Kim M
    Int J Genomics; 2022; 2022():5265686. PubMed ID: 36275637
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
    Hirschi OR; Felker SA; Rednam SP; Vallance KL; Parsons DW; Roy A; Cooper GM; Plon SE
    medRxiv; 2023 Nov; ():. PubMed ID: 37961416
    [TBL] [Abstract][Full Text] [Related]  

  • 36. SpliceAPP: an interactive web server to predict splicing errors arising from human mutations.
    Huang AC; Su JY; Hung YJ; Chiang HL; Chen YT; Huang YT; Yu CA; Lin HN; Lin CL
    BMC Genomics; 2024 Jun; 25(1):600. PubMed ID: 38877417
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
    Hiraide T; Nakashima M; Ikeda T; Tanaka D; Osaka H; Saitsu H
    J Hum Genet; 2020 Oct; 65(10):921-925. PubMed ID: 32483275
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Computational analysis of splicing errors and mutations in human transcripts.
    Kurmangaliyev YZ; Gelfand MS
    BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Splicing mutations in inherited retinal diseases.
    Weisschuh N; Buena-Atienza E; Wissinger B
    Prog Retin Eye Res; 2021 Jan; 80():100874. PubMed ID: 32553897
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Predicting Splicing from Primary Sequence with Deep Learning.
    Jaganathan K; Kyriazopoulou Panagiotopoulou S; McRae JF; Darbandi SF; Knowles D; Li YI; Kosmicki JA; Arbelaez J; Cui W; Schwartz GB; Chow ED; Kanterakis E; Gao H; Kia A; Batzoglou S; Sanders SJ; Farh KK
    Cell; 2019 Jan; 176(3):535-548.e24. PubMed ID: 30661751
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.