Short CV/Education and training

  • Since 2017
    SNSF Assistant Professor University of Zurich, Switzerland

  • 2013 – 2017
    SNSF Ambizione fellow University of Zurich, Switzerland

  • 2011 – 2012
    Acting Assistant Professor University of Washington, USA

  • 2008 – 2011
    Residency and Fellowship Medical Genetics University of Washington, USA

  • 2007
    Oberarzt Pediatrics University Hospital Geneva, Switzerland

  • 2004 – 2006
    Residency Pediatrics University Hospital Geneva, Switzerland

  • 2001 – 2003
    Post-doctoral fellowship Fred Hutchinson Cancer Research Center, USA

  • 2001
    Medical doctoral thesis

  • 1998 – 2001
    Residency Pediatric surgery and Pediatrics

  • 1998
    Medical school degree, University of Geneva, Switzerland

Selected publications

  • Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics, Bamshad MJ; Genomics England Research Consortium, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656.

  • Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399.

  • Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Ziegler U, Neuhauss SCF, Bachmann-Gagescu R: Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genet 2017;13(12): e1007150.

  • Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in Medicine, 2017 Aug 3. doi: 10.1038/gim.2017.94. Recommended by « Faculty of 1000 »

  • Van De Weghe JC*, Rusterholz TDS*, Latour B*, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R*, Bachmann-Gagescu R*, Doherty D*. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. (*contributed equally)

  • Bachmann-Gagescu R*, Dona M*, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SEC, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SCF, Kremer H, van Wijk E: The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-regulated Vesicle Trafficking. PLoS Genetics, 2015, Oct 20;11(10):e1005575. (*contributed equally)

  • Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla A, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D: Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics 2015 Aug;52(8):514-22. Editor’s choice article.

  • Tuz K*, Bachmann-Gagescu R*, O’Day DR *, Hua K, Isabella CR, Phelps IG, Stolarski AE, O’Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SCF, Haldeman-Englert CR, Doherty D, and Ferland RJ: Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. American Journal of Human Genetics, 2014 Jan 2; (94):1-11. (*contributed equally)

  • Bachmann-Gagescu R, Phelps IG, Stearns G, Link B, Brockerhoff SE, Moens CB and Doherty D: The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-mediated vesicle trafficking. Human Molecular Genetics 2011 Oct 15;20(20):4041-55. Recommended by « Faculty of 1000 ».

Complete list of publications

Selected projects

  • Understanding the molecular mechanisms underlying phenotypic variability in ciliopathies (SNSF PP00P3_170681)

Membership in scientific bodies/juries

  • Neuroscience Center Zurich (ZNZ)

  • American Society of Human Genetics

  • European Society of Human Genetics

  • Swiss Society of Medical Genetics

  • Fédération Médicale Helvétique (FMH)

  • Société Suisse de Pédiatrie

Additional qualifications

  • SNSF Professorship grant, 2017

  • SNSF Ambizione-SCORE grant, 2012 and 2016

Soft Skills/Other activities and achievements

Other activities and achievements/family

  • Three children (2001, 2003, and 2009)


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