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Institut für Medizinische Molekulargenetik

Wolfgang Berger

Current Position

  • Full Professor and Director of the Institute

Education and Training

  • Specialist for medical genetic analysis FAMH (April 2005)
  • Venia Legendi ´Humangenetik´ (1999), Medical Faculty (Charité), Humboldt-University Berlin, Germany
  • Ph.D. in Life Sciences (1989), Science Faculty, Humboldt-University, Berlin, Germany
  • Diploma in Biology (1983), University of Greifswald, Germany

Research Interests

  • Genetic basis of monogenic and complex human diseases with focus on retinal degenerations and dysfunctions (retinitis pigmentosa, macular degeneration, night blindness, exudative vitreoretinopathies, Norrie disease, Wagner disease)
  • Molecular pathophysiology of retinal diseases
  • Signaling pathways in retinal angiogenesis
  • Generation and characterization of mouse models for monogenic retinal degenerations


  • July 2010 – present:
    Director, Institute of Medical Molecular Genetics, Medical Faculty, University of Zurich
  • February 2009 – June 2010:
    Director, Institute of Medical Genetics, Medical Faculty, University of Zurich
  • May 2002 - present:
    Full Professor of Medical Molecular Genetics and Gene Diagnostics, Medical Faculty, University of Zurich, Switzerland
  • January 2001 - April2002:
    C3 position (Associate Professor), Max Planck Institute for Molecular Genetics, Dept. Ropers, Berlin, Germany
  • August 1995 - December 2000:
    Group leader position (Assistant Professor), Max Planck Institute for Molecular Genetics, Dept. Ropers, Berlin, Germany
  • September 1990 - July1995:
    Postdoctoral fellow, Department of Human Genetics, University Hospital Nijmegen, The Netherlands
  • February 1987 - August 1990:
    Postdoctoral fellow, Institute for Medical Genetics, Humboldt-University, Berlin, Germany
  • September 1983 - January 1987:
    PhD student, Central Institute for Molecular Biology, Academy of Sciences, Berlin-Buch, Germany

Memberships in Professional Societies

  • European Society of Human Genetics (ESHG)
  • Foederatio Analyticorum Medicinalium Helveticorum (FAMH)
  • Swiss Society of Medical Genetics (SSMG), Co-President 2010-2016

Board Memberships

  • Swiss Society of Medical Genetics, elected Board Member (November 2005 - April 2016), Co-President FAMH (April 2010 - April 2016)
  • Scientific Board of SAPALDIA (Swiss Cohort Study on Air Pollution and Lung Diseases in Adults), since March 2006
  • FAMH (Foederatio Analyticorum Medicinalium Helveticorum, Swiss Association of Directors in Laboratory Medicine), Committee of Experts, since July 2007
  • Scientific and Medical Advisory Board, Retina Suisse, since April 2008



  • 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.
  • 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 (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.
  • 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 (Epub ehead of print).


  • 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.
  • 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.
  • 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.


  • Costa S, Medeiros-Domingo A, Gasperetti A, Akdis D, Berger W, James CA, Ruschitzka F, Brunckhorst CB, Duru F, Saguner AM (2021) Impact of genetic variant reassessment on the diagnosis of arrhythmogenic right ventricular cardiomyopathy based on the 2010 task force criteria. Circ Genom Precis Med 14:e003047.
  • Haug P, Koller S, Maggi J, Lang E, Silke Feil S, Wlodarczyk A, Bähr L, Steindl K, Rohrbach M, *Gerth-Kahlert C, *Berger W (2021) Whole exome sequencing in coloboma/microphthalmia: Identification of novel and recurrent variants in seven genes. Genes 12:65.
  • Maggi J, Koller S, Baehr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W (2021) Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases. Int J Mol Sci 22:1508.
  • Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüeggger C, Kottke R, Toelle S, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, *Berger W, *Gerth- Kahlert C (2021) Genetic analysis in a Swiss cohort of bilateral congenital cataract. JAMA Ophthalmol (in press).


  • Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W (2020) Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Hum Mol Genet 29:132-148
  • Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST (2020) Application of WES towards molecular investigation of congenital cataracts: Identification of novel alleles and genes in a hospital-based cohort of south India. Int J Mol Sci 21:9569.
  • Klee K, Storti F, Maggi J, Todorova V, Karademir D, Berger W, Samardzija M, Grimm C (2020) The expression of DEPP is controlled by three distal consensus HRE elements in hypoxic retinal epithelial cells. Genes 11:111.
  • Lang E, Koller S, Bähr L, Töteberg-Harms M, Atac D, Roulez F, Bahr A, Steindl K, Feil F, Berger W, Gerth-Kahlert C (2020) Exome sequencing in a Swiss childhood glaucoma cohort reveals CYP1B1 and FOXC1 variants as most frequent causes. Transl Vis Sci Technol 9:47.
  • Lang E, Koller S, Atac D,Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, *Berger W, *Gerth-Kahlert C (2020) Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmol (epub ahead of print).
  • Maggi J, Roberts L, Koller S, Rebello G, *Berger W, *Ramesar R (2020) De novo assembly-based analysis of RPGR exon ORF15 in an indigenous African cohort overcomes limitations of a standard next-generation sequencing (NGS) data analysis pipeline. Genes 11:800. 
  • Ulv Larsen SM, Landolt HP, Berger W, Nedergaard M, Knudsen GM, Holst SC (2020) Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep. PLoS Biol 18:e3000623


  • Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak Pfiffner F, Bahr A, Berger W (2019) Genotype - phenotype analysis of a novel recessive and a recurrent dominant SNRNP200 variant causing retinitis pigmentosa. Invest Ophthalmol Vis Sci 60:2822-2835
  • Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B (2019) Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse and humans. Front Physiol 10:688
  • Park H, Yamamoto H, Mohn L, Ambühl L, Kanai K, Schmidt I, Kim KP, Fraccaroli A, Feil S, Junge HJ, Montanez E, Berger W, Adams RH (2019) Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. Nat Commun 10:5243


  • Beck SC, Karlstetter M, Garcia Garrido M, Feng Y, Dannhausen K, Mühlfriedel R, Sothilingam V, Seebauer B, Berger W, Hammes HP, Seeliger MW, Langmann T (2018) Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina. Sci Rep 8:5970
  • Gerth-Kahlert C, Maggi J,Toteberg-Harms M, Tiwari A, Budde B, Nürnberg P, Koller S, Berger W (2018) Absence of goniodysgenesis in patients with chromosome 13q microdeletion-related microcoria. Ophthalmol Glaucoma 1:145-147
  • Gerth-Kahlert C, Tiwari A, Hauri-Hohl MM, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W (2018) Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genet 39:92-94
  • Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2018) Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes. Int J Legal Med 132:1057-1065
  • Valomon A, Holst SC, Borrello A, Weigend S, Müller T, Berger W, Sommerauer M, Baumann CR, Landolt HP (2018) Effects of COMT genotype and tolcapone on lapses of sustained attention after sleep deprivation in healthy young men. Neuropsychopharmacology 43:1599-1607


  • Beck S, Feng Y, Sothilingam V, Garcia Garrido M, Tanimoto N, Acar N, Seebauer B, Berger W, Hammes HP, Seeliger M (2017) Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. PLoS ONE 12:e0178753
  • Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L,  Magyar I, Koller S, Azzarello-Burri S,  Niedrist D, Heon E, Berger W (2017) C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa: clinical analysis and presentation of 8 novel mutations. Invest Ophthalmol Vis Sci 58:3840-3850
  • Gerth-Kahlert G, Tiwari A, Hauri M, Hanson JVM, Bahr A, Palmowski-Wolfe A, Güngör T, Berger W (2017) Unusual retinopathy in a child with severe combined immuno deficiency. Ophthalmic Genet 39:92-94
  • Holst S, Müller T, Valomon A, Seebauer B, Berger W, Landolt HP (2017) Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Sci Rep 7:45982
  • Medeiros-Domingo A, Saguner AM, Magyar I, Duru F, Bahr A, Akdis D, Brunckhorst C, Berger W (2016) Arrhythmogenic right ventricular cardiomyopathy versus dilated cardiomyopathy: Implications of next generation sequencing in appropriate diagnosis. Europace 19:1063-1069
  • Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2017) Post-mortem whole exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet 25:404-409
  • Stäubli A, Fuhrer Y, Munier F, Schorderet D, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo S, Kloeckener-Gruissem B (2017) Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Hum Mol Genet 26:4203-4214
  • Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP (2017) A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. J Psychopharmacol 31:233-242


  • Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet (Epub ahead of print)
  • Medeiros-Domingo A, Saguner AM, Magyar I, Duru F, Bahr A, Akdis D, Brunckhorst C, Berger W (2016) Arrhythmogenic right ventricular cardiomyopathy versus dilated cardiomyopathy: Implications of next generation sequencing in appropriate diagnosis. Europace (Epub ahead of print)
  • Neubauer J, Haas C, Bartsch C, Domingo-Medeiros A, Berger W (2016) Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med (Epub ahead of print)
  • Tiwari A, Bahr, Baehr L, Fleischhauer J, Zinkernagel M, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W (2016) Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep 6:28755
  • Tiwari A., Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W (2016) Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations. PLoS ONE (Epub ahead of print)
  • Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP (2016) A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. J Psychopharmacol. (Epub ahead of print)
  • Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E (2016) Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Invest Ophthalmol Vis Sci 57:2637-2646


Complete list of peer-reviewed publications (PDF, 144 KB)