211 related articles for article (PubMed ID: 36894704)
1. 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]
2. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Danis D; Jacobsen JOB; Carmody LC; Gargano MA; McMurry JA; Hegde A; Haendel MA; Valentini G; Smedley D; Robinson PN
Am J Hum Genet; 2021 Sep; 108(9):1564-1577. PubMed ID: 34289339
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Tectonic gene mutations in patients with Joubert syndrome.
Huppke P; Wegener E; Böhrer-Rabel H; Bolz HJ; Zoll B; Gärtner J; Bergmann C
Eur J Hum Genet; 2015 May; 23(5):616-20. PubMed ID: 25118024
[TBL] [Abstract][Full Text] [Related]
7. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
Zhu H; Chen W; Ren H; Zhang Y; Niu Y; Wu D; Jiang L
Eur J Med Genet; 2021 Jun; 64(6):104212. PubMed ID: 33794348
[TBL] [Abstract][Full Text] [Related]
8. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J; Vilboux T; Mian L; Kuptanon C; Sinclair CM; Yildirimli D; Maynard DM; Bryant J; Fischer R; Vemulapalli M; Mullikin JC; ; Huizing M; Gahl WA; Malicdan MCV; Gunay-Aygun M
Hum Genet; 2017 Apr; 136(4):399-408. PubMed ID: 28220259
[TBL] [Abstract][Full Text] [Related]
9. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y; Wang H; Liu Z; Luo M; Ma S; Lu C; Cao Z; Yu Y; Cai R; Chen C; Li Q; Gao H; Peng Y; Xu B; Ma X
BMC Med Genet; 2020 Oct; 21(1):192. PubMed ID: 33004012
[TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
[TBL] [Abstract][Full Text] [Related]
13. Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
Cormier MJ; Pedersen BS; Bayrak-Toydemir P; Quinlan AR
BMC Bioinformatics; 2022 Nov; 23(1):482. PubMed ID: 36376793
[TBL] [Abstract][Full Text] [Related]
14. The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Verbakel SK; Fadaie Z; Klevering BJ; van Genderen MM; Feenstra I; Cremers FPM; Hoyng CB; Roosing S
Mol Genet Genomic Med; 2019 Jun; 7(6):e660. PubMed ID: 30950243
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.
Shirah BH; Alshaikh NM; Shawli A; Naseer MI
Brain Dev; 2022 Apr; 44(4):299-302. PubMed ID: 34980503
[TBL] [Abstract][Full Text] [Related]
18. Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C; Sun Z; Xu L; Che F; Liu S
Int J Dev Neurosci; 2021 Oct; 81(6):529-538. PubMed ID: 34091942
[TBL] [Abstract][Full Text] [Related]
19. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
Bizzari S; Hamzeh AR; Nair P; Mohamed M; Bastaki F
Pediatr Int; 2017 Jan; 59(1):113-114. PubMed ID: 28102635
[No Abstract] [Full Text] [Related]
20. Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H; Wu Y; Wang Y; Zhang J
Mol Genet Genomic Med; 2022 Mar; 10(3):e1877. PubMed ID: 35092359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
