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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L. Iqbal Z, et al. Among authors: gilissen c. Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390136 Free article.
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.
Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D. Sumathipala D, et al. Among authors: gilissen c. Pediatr Neurol. 2019 Jul;96:74-75. doi: 10.1016/j.pediatrneurol.2019.02.001. Epub 2019 Feb 13. Pediatr Neurol. 2019. PMID: 30898414 No abstract available.
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Zazo-Seco C, et al. Among authors: gilissen c. J Hum Genet. 2020 May;65(5):487-491. doi: 10.1038/s10038-020-0726-x. Epub 2020 Feb 3. J Hum Genet. 2020. PMID: 32015378 Clinical Trial.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E. Sumathipala D, et al. Among authors: gilissen c. BMC Med Genet. 2020 May 7;21(1):96. doi: 10.1186/s12881-020-01024-y. BMC Med Genet. 2020. PMID: 32381069 Free PMC article.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: gilissen c. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. Fadaie Z, et al. Among authors: gilissen c. J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910932
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. Among authors: gilissen c. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 Free PMC article.
264 results