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Institut für Medizinische Molekulargenetik

Publications 2023

  • de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S (2023) Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genet Med 25:100345.
  • Delas F, Koller S, Feil S, Dacheva I, Gerth-Kahlert* C, Berger* W (2023) Novel CRYGC mutation in conserved UV protective tryptophan (p.Trp131Arg) is linked to autosomal dominant congenital cataract. Int J Mol Sci (in press).
  • Jeltsch BM, Sarraf D, Madjdpour D, Hanson JVM, Kivrak Pfiffner F, Koller S, Berger W, Barthelmes D, Al-Sheikh M (2023) Rapid onset hydroxychloroquine toxicity. Retin Cases Brief Rep (Epub ahead of print).
  • Koller S, Beltraminelli T, Maggi J, Wlodarczyk A, Feil S, Baehr L, Gerth-Kahlert C, Menghini M, Berger W (2023) Functional analysis of a novel, non-canonical RPGR splice variant causing X-linked retinitis pigmentosa. Genes 14:934.
  • Pauzuolyte V, Patel A, Wawrzynski JR, Ingham NJ, Leong YC, Karda R, Bitner-Glindzicz M, Berger W, Waddington SN, Steel KP, Sowden JC (2023) Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Mol Med e17393.
  • Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Kivrak Pfiffner F, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S (2023) Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. HGG Adv 4:100181.
  • Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann A, Laugel V, Mohammed S, Kang PB (2023) The Spectrum of MORC2-related disorders: a potential link to Cockayne syndrome. Pediatr Neurol 141:79-86.

    *equal contribution; shared last authorship