Bachmann lab - Publications

Peer-reviewed Articles

Masek M*, Etard C*, Hofmann C, Hülsmeier A, Zang J, Takamiya M, Gesemann M, Neuhauss S, Hornemann T, Strähle U#, Bachmann-Gagescu R#. The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. Provisionally accepted at Nature Communications pending editorial requests. bioRxiv : (* and # contributed equally).

Cardenas-Rodriguez M, Austin-Tse C, Bergboer JGM, Molinari E, Sugano Y, Bachmann-Gagescu R, Sayer JA, Drummond IA. Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science. 2021 Jun 22:jcs.258568. doi: 10.1242/jcs.258568

Latour BL*,   Van De Weghe JC*, Rusterholz TDS*, Letteboer SJF,  Gomez A,  Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, Van Beersum SEC, Miller CV, Dempsey JC, Morsy H, University of Washington Center for Mendelian Genomics, Genomics England Research Consortium, Bamshad MJ, Nickerson DA, Neuhauss SCF,  Boldt K,  Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R+, Roepman R+, Doherty D+: ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability. Journal of Clinical Investigation 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. (* and + contributed equally).


Ansar M*, Ebstein F*, Özkoç H*, Paracha SA*, Iwaszkiewicz J, Gesemann M, Zoete V, Ranza E, Santoni FA, Sarwar MT, Ahmed J, Krüger E, BachmannGagescu R#, Antonarakis SE#: Biallelic variants in PSMB1 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics.  2020 Mar 4:ddaa032. Online ahead of print. doi: 10.1093/hmg/ddaa032.(* and # contributed equally).    


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 AG, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D: Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics Part A 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399


Bachmann-Gagescu R: A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Invited commentary, Journal of Pathology 2019 Aug;248(4):393-395.


Bachmann-Gagescu R and Neuhauss SCF: The photoreceptor cilium and its diseases. Invited Review article, Current Opinion in Genetics and Development 2019 Jun;56:22-33.



Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri A, Sheth F, Verma IC, Dua Puri R, Zollino M, Bachmann-Gagescu R, Niedrist D, PapikD, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L, Passemard S, Verloes A, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A: Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 2019 Mar 7.


Begemann A, Acuña MA, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, Abela L, Plecko B, Kroell-Seger J, Baumer A, Yamakawa K, Inoue Y, Asadollahi R, Sticht H, Zeilhofer HU, Rauch A: Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, Feb 27;25(1):6.


Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM: Deleterious variation in BRSK2 associates with a neurodevelopmental disorder. American Journal of Human Genetics,  2019 Apr 4;104(4):701-708.


Ojeda Naharros I, Cristian FB, Zang J, Gesemann M, Neuhauss SCF, Bachmann-Gagescu R: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Sci Rep. 2018 Feb 2;8(1):2211. doi: 10.1038/s41598-018-20489-9.


Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Moens CB, 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 13(12): e1007150.


Phelps I, Dempsey JC, Grout M, Isabella C, Doherty D, Bachmann-Gagescu R: Interpreting 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 A, Alzaidan H, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns W, Alkuraya F, 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. In press at AJHG.(* and + contributed equally).


Mateos JM, Barmettler G, Doehner J, Oheda Naharros I, Guhl Bruno, Neuhauss SC,F, Kaech A, Bachmann-Gagescu R, Ziegler U: Correlative super-resolution and electron microscopy to resolve protein localization in zebrafish retina.J Vis Exp. 2017 Nov 10;(129). doi: 10.3791/56113


Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D: Mortality in Joubert syndrome. American Journal of Medical Genetics part A, 2017, May;173(5):1237-1242


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)


Dona M*, Bachmann-Gagescu R*, Texier Y, Toedt G, Hetterschijt L,. Tonnaer EL, Peters TA, Van Beersum SE, Bergboer JGM, Horn N, De Vrieze E, Slijkerman RWN, Van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, Van Wijk E: NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in zebrafish. PLoS Genetics, 2015, Oct 20;11(10):e1005574. (*contributed equally)


Bachmann-Gagescu R*, Phelps IG*, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics, Shendure J, Doherty D: KIAA0586 is Mutated in Joubert Syndrome. Human Mutation. 2015 Sep;36(9):831-5. (*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.


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, Ishak GE, Dempsey J, Adkins J, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed A, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D: Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of Medical Genetics 2012 Feb;49(2):126-37.


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 »)


Bachmann-Gagescu R, Hisama F, Lawson-Yuen A: Myhre syndrome with ataxia and cerebellar atrophy. Clinical Dysmorphology 2011 Jul; 20(3):156-9.


Bachmann-Gagescu R*, Mefford HC*, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE,  Ballif BC,  Rosenfeld J, Tsuchiya KD : Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine 2010 Oct; 12(10):641-7. (*contributed equally)


Bachmann-Gagescu R, Merritt LJ, II, Hahn S. A cognitively normal PDH deficient 18 year-old male carrying the R263G mutation in the PDHA1 gene. Journal of Inherited Metabolic Disease, 2009 Jul 29.


Hernandez RE, Rikhof HA, Bachmann R, Moens CB: vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development 2004 Sep; 131(18):4511-20.


Bachmann R, Genin B, Bugmann P, Belli D, Le Coultre C: Hepatic Hemangioendothliomas – Case report of a neonate treated by selective ligation of a hepatic artery branch and review of the literature. European Journal of Pediatric Surgery 2003; 13: 280-284.


Le Coultre C, Battaglin C, Bugmann P, Genin B, Bachmann R, McLin V, Mentha G, Belli D: Biliary Atresia and Orthotopic Liver Transplantation. 11 Years of Experience in Geneva. Swiss Surgery 2001; 7: 199-204.

Review and educational Articles

Bachmann-Gagescu R. Schlaglichter Genetick: Konsequenzen der next generation genetischen Diagnostik; das Beispiel der Ziliopathien. Swiss Medical Forum. In press.


Bachmann-Gagescu R, Rauch A: Potenzial und Herausforderungen der Genomchirurgie mit CRISPR. Bulletin SAMW (Schweizerische Akademie der Wissenschaften). 4/15.


Bachmann-Gagescu R: Complexité génétique des ciliopathies et identification de nouveaux gènes responsables de ciliopathies. Invited review article for a special issue of médecine/sciences on primary cilia. Med Sci (Paris). 2014 Nov;30(11):1011-23.


Pajarola S, Bachmann R, Niedrist D, Rauch A: Grundlagen der medizinischen Genetik, Praxis, 2013 Nov 1;102(24):1457-65.