Most recent publications

• Atac* D, Mohn* L, Feil S, Maggi K, Haenni D, Seebauer B, Koller S, Berger W (2022) Functional characterization of an in-frame deletion in the basic domain of the retinal transcription factor ATOH7. Int J Mol Sci 23:1053.
• Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson L, Smith KE, Moulding D, Leong YC, Jafree D, Long D, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. J Clin Invest Insight 7:e148586.
• 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 (2022) Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genet Med 16:100345.
• Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U,  Bähr L,  Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W (2022) Homozygosity for a novel DOCK7 variant due to segmental uniparental isodisomy of chromosome 1 associated with early infantile epileptic encephalopathy (EIEE) and cortical visual impairment. Int J Mol Sci 23:7382.

• 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 (in press).

• Kraemer D, Terumalai D, Famiglietti ML, Filges I, Joset P, Koller S, Maurer F, Meier S, Nouspikel T, Sanz J, Zweier C, Abramowicz M, Berger W, Cichon S, Schaller A, Superti-Furga A, Barbié V, Rauch A (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. medRxiv 22283790, University of Zurich.
• Neubauer J, Kissel CK, Billiger SA, Barbon D, Thali MJ, Clobber D, Bode PK, Kovacs B, Graf U, Maspoli A, Berger W, Sager AM, Haas C (2022) Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland. Forensic Sci Int 334:111240.
• Peters F, Ebner LJA, Atac D, Maggi J, Berger W, den Hollander AI, Grimm C (2022) Regulation of ABCA1 by AMD-associated genetic variants and hypoxia in iPSC-RPE. Int J Mol Sci 23:31.
• 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 (Epub ehead of print).
  
  *equal contribution; shared last authorship

Awards and Awardees