Wolfgang Berger

Current Position

  • Full Professor and Director of the Institute

Education and Training

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

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

Positions

  • 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:
    Postgraduate student, Central Institute for Molecular Biology, Academy of Sciences, Berlin-Buch, Germany

Memberships in Professional Societies

  • American Society of Human Genetics (ASHG)
  • Association for Research in Vision and Ophthalmology (ARVO)
  • European Vision Institute (EVI)
  • Foederatio Analyticorum Medicinalium Helveticorum (FAMH)
  • Swiss Society of Medical Genetics, 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

Publications (last 10 years)

2018

  • 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

2017

  • 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 (in press)
  • 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 (Epub ahead of print)
  • 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

2016

  • 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

2015

  • Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J (2015) Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Ther 22:413-420
  • Gerth-Kahlert C, Seebauer B, Dold S, Hanson JVM, Wildberger H, Spörri A, van Waes H, Berger W (2015) Intra-familial phenotype variability in patients with Jalili syndrome. Eye (Epub ahead of print)

2014

  • Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 22:99-104
  • Haghighi A, Tiwari A, Piri N, Nurnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nurnberg P, Berger W (2014) Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE 9:e112747
  • Holst SC, Bersagliere A, Bachmann V, Berger W, Achermann P, Landolt HP (2014) Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. J Neurosci 8:566-573
  • Oczos J, Sutter I, Kloeckener-Gruissem B, Berger W, Riwanto M, Rentsch K, Hornemann T, von Eckardstein A, Grimm C (2014) Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Invest Ophthalmol Vis Sci 55:4714-4727
  • Valomon A, Holst SC, Bachmann V, Viola AU, Schmidt C, Zürcher J, Berger W, Cajochen C, Landolt HP (2014) Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiol Int 31:705-714

2013

  • Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SMR, Kloeckener-Gruissem B (2013) The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet 22:3218-3226
  • Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan LC, Pogorzelski A, Martin J, Haan EA, Berger W, Omran H, Witt M (2012) RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 48:352-363
  • Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP (2013) ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 110:9856-9861
  • Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2013) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet (Epub ahead of print)
  • Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W (2013) Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet 21:352-356
  • Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J (2013) A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther 24:97-104
  • Thun GA, Imboden M, Berger W, Rochat T, Probst-Hensch NM (2013) The Association of a Variant in the Cell Cycle Control Gene CCND1 and Obesity on the Development of Asthma in the Swiss SAPALDIA Study. J Asthma 50:147-154

2012

  • Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C (2012) Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 90:321-330
  • Bachmann V, Klaus F, Bodenmann S, Schäfer N, Brugger P, Huber S, Berger W, Landolt HP (2012) Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cereb Cortex 22:962-970
  • Bachmann V, Klein C, Bodenmann S, Schäfer N, Berger W, Brugger P, Landolt HP (2012) The BDNF Val66Met polymorphism modulates sleep intensity: EEG frequency- and state-specificity. Sleep 35:335-344
  • Menghini M, Kloeckener-Gruissem B, Fleischhauer J, Kurz-Levin MM, Sutter FKP, Berger W, Barthelmes D (2012) Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS One 7:e42014, Epub July 25
  • Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W (2012) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). AGE Epub September 7 2012
  • Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W (2012) Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Hum Mol Genet 21:2619-2630
  • Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S (2012) Multimodal Imaging of Autosomal Dominant Drusen. Klin Monbl Augenheilkd 229:399-402

2011

  • Curjuric I, Zemp E, Dratva J, Ackermann-Liebrich U, Bridevaux PO, Bettschart RW, Brutsche M, Frey M, Gerbase MW, Knöpfli B, Künzli N, Pons M, Schwartz J, Schindler C, Rochat T; SAPALDIA team (2011) Determinants of change in airway reactivity over 11 years in the SAPALDIA population study. Eur Respir J 37:492-500
  • Gerbase MW, Keidel D, Imboden M, Gemperli A, Bircher A, Schmid-Grendelmeier P, Bridevaux PO, Berger W, Schindler C, Rochat T, Probst-Hensch N (2011) Effect modification of IgE-mediated atopy and rhinitis by GST genotypes in passive smokers. Clin Exp Allergy 41:1579-1586
  • Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J (2011) Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther 19:936-941
  • Kloeckener-Gruissem B, Barthelmes D, Labs S, Schindler C, Kurz-Levin M, Michels S, Fleischhauer J, Berger W, Sutter F, Menghini M (2011) Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci 52:4694-4702
  • Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J (2011) U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Hum Mutat 32:815-824 2010

2010

  • Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335-375
  • Brunner S, Skosyrski S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Luhmann UFO, Rüther K, Berger W (2010) Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Invest Ophthalmol Vis Sci 51:1106-1115
  • Curjuric I, Imboden M, Schindler C, Downs SH, Hersberger M, Liu SLJ, Mátyás G, Russi EW, Schwartz J, Thun GA, Postma DS, Rochat T, Probst-Hensch NM, and the SAPALDIA team (2010) HMOX1 and GST variants modify attenuation of FEF25-75-decline due to PM10 reduction. Eur Respir J 35:505-514
  • Hersberger M, Thun GA, Imboden M, Brandstätter A, Waechter V, Summerer M, Schmid-Grendelmeier P, Bircher A, Rohrer L, Berger W, Russi EW, Rochat T, Kronenberg F, Probst-Hensch N (2010) Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Hum Immunol 71:1154-1160
  • Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J (2010) ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci 51:4253-4265
  • Schmid F, Glaus E, Cremers FPM, Kloeckener-Gruissem B, Berger W, Neidhardt J (2010) Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci 51:1628-1635
  • Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B (2010) Alterations of the 5’untranslated leader region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci 51:3354-3361

2009

  • Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot E, Lorenz B, Preising M, Kellner U, Renner A, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C (2009) TRPM1 is mutated in patients with complete autosomal recessive congenital stationary night blindness. Am J Hum Genet 85:720-729
  • Bodenmann S, Xu S, Luhmann UFO, Arand M, Berger W, Jung H, Landolt HP (2009) Pharmacogenetics of modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clin Pharmacol Ther 85:296-304
  • Castro-Giner F, Kogevinas M, Imboden M, de Cid R, Jarvis D, Mächler M, Berger W, Burney P, Franklin KA, Gonzalez JR, Heinrich J, Janson C, Omenaas E, Pin I, Rochat T, Sunyer J, Wjst M, Antó JM, Estivill X, Probst-Hensch NM (2009) Joint effect of obesity and TNFA variability on asthma: two international cohort studies. Eur Respir J 33:1003-1009
  • Imboden M, Schwartz J, Schindler C, Curjuric I, Berger W, Liu SL, Russi EW, Ackermann-Liebrich U, Rochat T, Probst-Hensch NM (2009) Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect 117:1420-1427
  • Leroy BP, Budde B, Wittmer M, De Baere E, Berger W, Zeitz C (2009) A common NYX mutation in Flemish patients with X-linked CSNB. Brit J Ophthalmol 93:692-696
  • Macas E, Mátyás G, Reuge P, Berger W, Imthurn B (2009) Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification. Reprod Biomed Online 18:815–820
  • Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor M-C, Berger W, Carrel T, Steinmann B, Mátyás G (2009) Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat 30:1355-1364
  • Schäfer NF, Luhmann UF, Feil S, Berger W (2009) Differential gene expression in Ndph knockout mice in retinal development. Invest Ophthalmol Vis Sci 50:906-916
  • Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J (2009) Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Hum Mutat 30:255-263
  • Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Said S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W (2009) Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci 50:5919-5926

2008

  • Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W (2008) Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod 79:608-617
  • Castro-Giner F, Kogevinas M, Machler M, de Cid R, Steen KV, Imboden M, Schindler C, Berger W, Gonzalez JR, Franklin KA, Janson C, Jarvis D, Omenaas E, Burney P, Rochat T, Estivill X, Anto JM, Wjst M, Probst-Hensch NM (2008) TNFA-308 in two international population-based cohorts shows increased risk for asthma. Eur Respir J 32:350-361
  • Fröhlich BA, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, Russi WE (2008) Novel mutations in the folliculin (FLCN) gene associated with spontaneous pneumothorax. Eur Respir J 32:1316-1320
  • Imboden M, Rochat T, Brutsche M, Schindler C, Downs SH, Gerbase MW, Berger W, Probst-Hensch NM (2008) Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax 63:322-328
  • Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G, Neidhardt J, Zeitz C, Nurnberg P, Schipper I, Berger W (2008) Mutation of the solute carrier SLC16A12 associates with a syndrome combining autosomal dominant juvenile cataract with microcornea and glucosuria. Am J Hum Genet 82:772-779
  • Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schaefer NF, Glaus E, Feil S, Berger W (2008) Vascular changes in the cerebellum of Norrin/Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. Eur J Neurosci 27:2619-2628
  • Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FPM, Bergen AAB, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nurnberg G, Nurnberg P, Bolz HJ, Gal A, Berger W (2008) Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 14:1081-1093
  • Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W (2008) Syndromic choroideremia - sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome (MPDMRS). Invest Ophthalmol Vis Sci 49:4096-4104
  • Probst-Hensch NM, Imboden M, Felber DD, Barthelemy JC, Ackermann-Liebrich U, Berger W, Gaspoz JM, Schwartz J (2008) Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environ Health Perspect 116:1494-1499
  • Senn O, Russi EW, Schindler C, Imboden M, von Eckardstein A, Brandli O, Zemp E, Ackermann-Liebrich U, Berger W, Rochat T, Luisetti M, Probst-Hensch NM (2008) Circulating alpha1-antitrypsin in the general population: Determinants and association with lung function. Respir Res 9:35
  • Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W (2008) Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci 49:4105-4114
  • Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, Campo I, Ottaviani S, Scabini R, von Eckardstein A, Berger W, Brandli O, Rochat T, Luisetti M, Probst-Hensch N (2008) SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 54:1331-1338

2007

  • Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D (2007) A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A 143:1150-1158
  • Cremers FP, Kimberling WJ, Kulm M, de Brouwer AP, van Wijk E, Te BH, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H (2007) Development of a genotyping microarray for Usher syndrome. J Med Genet 44:153-160
  • Imboden M, Downs SH, Senn O, Matyas G, Brandli O, Russi EW, Schindler C, Ackermann-Liebrich U, Berger W, Probst-Hensch NM (2007) Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respir Res 8:2
  • Matyas G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W (2007) Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet 122:23-32
  • Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W (2007) Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat 28:797-807
  • Retey JV, Adam M, Khatami R, Luhmann UF, Jung HH, Berger W, Landolt HP (2007) A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clin Pharmacol Ther 81:692-698
  • Zeitz C, Forster U, Neidhardt J, Feil S, Kalin S, Leifert D, Flor PJ, Berger W (2007) Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat 28:771-780

Complete list of peer-reviewed publications (PDF, 132 KB)