Bachmann-Gagescu Group - Publications

Alves, Victoria Cunha; Carro, Eva; Figueiro-Silva, Joana (2024).
Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. 
DOI: 10.4103/1673-5374.393106, S2CID: 266907319, Neural Regeneration Research, 19(11):2365-2376. 2024 Nov.

Alves, Victoria Cunha; Figueiro-Silva, Joana; Trullas, Ramon; Ferrer, Isidre; Carro, Eva (2024).
Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease.
DOI: 10.3390/genes15030385, S2CID: 268621629, Genes, 15(3):385. 2024 Mar. 21.

Vintschger E, Kraemer D, Joset P, Horn AHC, Rauch A, Sticht H, Bachmann-Gagescu R. (2023).
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. PMID: 36550190. PMCID: PMC10400553.  DOI: 10.1038/s41431-022-01267-8. Eur J Hum Genet. 2023 Aug;31(8):953-961.Epub 2022 Dec 23.

Alves, Victoria Cunha; Figueiro-Silva, Joana; Ferrer, Isidre; Carro, Eva (2023). 
Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer’s disease. PMID: 37405535, PMCID: PMC10322771, DOI: 10.1007/s00018-023-04845-1 Cellular and Molecular Life Sciences, 80(8):196.

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 Feb 2;110(2):215-227. DOI: 10.1016/j.ajhg.2022.12.007. PMID: 36586412 .  PMCID: PMC9943726Epub 2022 Dec 30.

Masek, Markus; Bachmann-Gagescu, Ruxandra (2023).
Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease. DOI: 10.1016/bs.ctdb.2023.09.001. PMID: 38043951. In: Iomini, Carlo; Sun, Yang. Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.

Masek M, Garbelli M, Zang J, Mateos JM, Ziegler U, Neuhauss SCF and Bachmann-Gagescu R. Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish. Invited contribution to Methods in Cell Biology issue on “Cilia: from physiology to disease”. Methods Cell Biol. 2023;175:97-128.  doi: 10.1016/bs.mcb.2022.10.004

Vintschger E, Joset P, Kraemer D, Horn A, Sticht H, Rauch A, Bachmann-Gagescu R. Challenges for the implementation of Expanded Carrier Screening: lessons learned from the ciliopathies. European Journal of Human Genetics. 2022 Dec 23. doi: 10.1038/s41431-022-01267-8

Hiatt S.M., Trajkova S., Rossi Sebastiano M., Partridge E.C., Abidi F.E., […], Bachmann-Gagescu R., […], Cooper G.M. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics. 2022 Dec 21:S0002-9297(22)00541-9. doi: 10.1016/j.ajhg.2022.12.007

Rusterholz TDS, Hofmann C and Bachmann-Gagescu R. Insights gained from zebrafish models on the ciliopathy Joubert syndrome. Invited contribution to a special topic on « Genetics and Mechanism of Ciliopathies » in Frontiers in Genetics Front Genet. 2022 Jun 30;13:939527. doi: 10.3389/fgene.2022.939527

Mytils A, Kumar V, Tao Q, Deis R, Levy K, Masek M, Hagai Eitan H, Nather F, Shawahny A, Bachmann-Gagescu R, Roy S, Elkouby YM. Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. Science 2022 May 12:eabh3104. doi: 10.1126/science.abh3104

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. Nature Communications 2022 Mar 11;13(1):1282. doi: 10.1038/s41467-022-28982-6 (* 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 SFJ, Gomez A, Shaheen R, Gesemann M, Grout ME, van Reeuwijk J, van Beersum SEC, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SCF, Boldt K, Ueffing M, Alkuraya FS, Bachmann-Gagescu R#, Ronald Roepman#, Dan Doherty#: 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, Bachmann-Gagescu E#, Antonarakis SE#. Biallelic variants in PSMB1 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics.  2020 May 8;29(7):1132-1143. 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

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, 21 (9), 2043-2058. doi: 10.1038/s41436-019-0464-7

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, 2019 Feb 27;25(1):6. doi: 10.1186/s10020-019-0073-6

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. doi: 10.1016/j.ajhg.2019.02.002

Bachmann-Gagescu R: A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Invited commentary, Journal of Pathology 2019; Aug;248(4):393-395. doi: 10.1002/path.5291

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. doi: 10.1016/j.gde.2019.05.004

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. Scientific Reports 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 2017;13(12): e1007150. https://doi.org/10.1371/journal.pgen.1007150

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

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

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)

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. doi: 10.1002/ajmg.a.38158

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. doi: 10.1371/journal.pgen.1005575 (*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. doi: 10.1371/journal.pgen.1005574 (*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 SyndromeHuman Mutation. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821  (*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. doi: 10.1136/jmedgenet-2015-103087

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. doi: 10.1016/j.ajhg.2013.11.019 (*contributed equally)

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. doi: 10.1051/medsci/20143011016

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. doi: 10.1136/jmedgenet-2011-100552

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. doi: 10.1093/hmg/ddr332

Bachmann-Gagescu R, Hisama F, Lawson-Yuen A: Myhre syndrome with ataxia and cerebellar atrophy. Clinical Dysmorphology 2011 Jul; 20(3):156-9. doi: 10.1097/MCD.0b013e3283468043

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. doi: 10.1097/GIM.0b013e3181ef4286 (*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. doi: 10.1007/s10545-009-1101-4

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. doi: 10.1242/dev.01297

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 doi: 10.1055/s-2003-42245

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. doi: 10.1024/1023-9332.7.5.199

Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024).
Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction.
DOI: 10.1101/2024.02.22.581530, S2CID: 268030550, medRxiv 581530, University of Zurich. 2024 Feb. 22. Working Paper/Preprint

 Noble,  Alexandra R.;  Masek, Markus; Hofmann, Claudia;  Cuoco, Arianna;  Rusterholz, Tamara D. S.;  Özkoc, Hayriye;  Greter,  Nadja R.;  Vladimirov, Nikita;  Kollmorgen,Sepp;  Stoeckli, Esther;  Bachmann-Gagescu, Ruxandra (2024).Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
DOI: 10.1101/2024.02.15.580456,  S2CID: 267740876, medRxiv 580456, University of Zurich. 2024 Feb. 15. Working Paper/Preprint

Stalder, P; Serdiuk, T; Ghosh, D; Fleischmann, Y;  Malinovska, L;  Davranche, A; Haenseler, Walther; Boudou, C ;  Tsika, E;  Ouared, A;  Stöhr, J; Melki, R; Riek, R; de Souza, N; Picotti P. (2023).
An approach to characterize mechanisms of action of anti-amyloidogenic compounds in vitro and in situ
DOI: 10.1101/2023.12.18.572111, medRxiv 572111, University of Zurich. 2023 Dec 18. Working Paper

Bachmann-Gagescu R. Schlaglichter Genetick: Konsequenzen der next generation genetischen Diagnostik; das Beispiel der Ziliopathien. Swiss Medical Forum. In press. doi: 10.4414/smf.2018.03122

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.