| Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity R Bachmann-Gagescu, JC Dempsey, IG Phelps, BJ O'roak, DM Knutzen, ... Journal of medical genetics 52 (8), 514-522, 2015 | 264 | 2015 |
| Recurrent 200-kb deletions of 16p11. 2 that include the SH2B1 gene are associated with developmental delay and obesity R Bachmann-Gagescu, HC Mefford, C Cowan, GM Glew, AV Hing, ... Genetics in medicine 12 (10), 641-647, 2010 | 215 | 2010 |
| vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish RE Hernandez, HA Rikhof, R Bachmann, CB Moens Oxford University Press for The Company of Biologists Limited 131 (18), 4511 …, 2004 | 128 | 2004 |
| Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy K Tuz, R Bachmann-Gagescu, DR O’Day, K Hua, CR Isabella, IG Phelps, ... The American Journal of Human Genetics 94 (1), 62-72, 2014 | 123 | 2014 |
| The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking R Bachmann-Gagescu, IG Phelps, G Stearns, BA Link, SE Brockerhoff, ... Human molecular genetics 20 (20), 4041-4055, 2011 | 113 | 2011 |
| Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ... The American Journal of Human Genetics 101 (1), 23-36, 2017 | 88 | 2017 |
| Healthcare recommendations for Joubert syndrome R Bachmann‐Gagescu, JC Dempsey, S Bulgheroni, ML Chen, S D'Arrigo, ... American journal of medical genetics Part A 182 (1), 229-249, 2020 | 83 | 2020 |
| KIAA0586 is Mutated in Joubert Syndrome R Bachmann‐Gagescu, IG Phelps, JC Dempsey, VA Sharma, GE Ishak, ... Human mutation 36 (9), 831-835, 2015 | 79 | 2015 |
| Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures R Bachmann-Gagescu, GE Ishak, JC Dempsey, J Adkins, D O'Day, ... Journal of medical genetics 49 (2), 126-137, 2012 | 74 | 2012 |
| Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly P Boonsawat, P Joset, K Steindl, B Oneda, L Gogoll, S Azzarello-Burri, ... Genetics in Medicine 21 (9), 2043-2058, 2019 | 71 | 2019 |
| The ciliopathy protein CC2D2A associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking R Bachmann-Gagescu, M Dona, L Hetterschijt, E Tonnaer, T Peters, ... PLoS genetics 11 (10), e1005575, 2015 | 71 | 2015 |
| Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ... The Journal of clinical investigation 130 (8), 4423-4439, 2020 | 52 | 2020 |
| Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes A Begemann, MA Acuña, M Zweier, M Vincent, K Steindl, ... Molecular Medicine 25, 1-15, 2019 | 46 | 2019 |
| The photoreceptor cilium and its diseases R Bachmann-Gagescu, SCF Neuhauss Current opinion in genetics & development 56, 22-33, 2019 | 46 | 2019 |
| Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental … M Ansar, F Ebstein, H Özkoç, SA Paracha, J Iwaszkiewicz, M Gesemann, ... Human molecular genetics 29 (7), 1132-1143, 2020 | 39 | 2020 |
| Mortality in Joubert syndrome JC Dempsey, IG Phelps, R Bachmann‐Gagescu, IA Glass, HM Tully, ... American journal of medical genetics Part A 173 (5), 1237-1242, 2017 | 36 | 2017 |
| Deleterious variation in BRSK2 associates with a neurodevelopmental disorder SM Hiatt, ML Thompson, JW Prokop, JMJ Lawlor, DE Gray, EM Bebin, ... The American Journal of Human Genetics 104 (4), 701-708, 2019 | 29 | 2019 |
| Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish … I Ojeda Naharros, M Gesemann, JM Mateos, G Barmettler, A Forbes, ... PLoS genetics 13 (12), e1007150, 2017 | 28 | 2017 |
| Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for … IG Phelps, JC Dempsey, ME Grout, CR Isabella, HM Tully, D Doherty, ... Genetics in medicine 20 (2), 223-233, 2018 | 26 | 2018 |
| NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in zebrafish M Dona, R Bachmann-Gagescu, Y Texier, G Toedt, L Hetterschijt, ... PLoS genetics 11 (10), e1005574, 2015 | 25 | 2015 |
