Long-distance communication by specialized cellular projections during pigment pattern development and evolution DS Eom, EJ Bain, LB Patterson, ME Grout, DM Parichy Elife 4, e12401, 2015 | 121 | 2015 |
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 | 95 | 2017 |
MACF1 mutations encoding highly conserved zinc-binding residues of the GAR domain cause defects in neuronal migration and axon guidance WB Dobyns, KA Aldinger, GE Ishak, GM Mirzaa, AE Timms, ME Grout, ... The American Journal of Human Genetics 103 (6), 1009-1021, 2018 | 65 | 2018 |
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 | 60 | 2020 |
Mutations in TRAPPC12 manifest in progressive childhood encephalopathy and Golgi dysfunction MP Milev, ME Grout, D Saint-Dic, YHH Cheng, IA Glass, CJ Hale, ... The American Journal of Human Genetics 101 (2), 291-299, 2017 | 46 | 2017 |
Rhombencephalosynapsis: fused cerebellum, confused geneticists KA Aldinger, JC Dempsey, HM Tully, ME Grout, MG Mehaffey, WB Dobyns, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018 | 36 | 2018 |
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 | 28 | 2018 |
Abnormal glycosylation in Joubert syndrome type 10 MS Kane, M Davids, MR Bond, CJ Adams, ME Grout, IG Phelps, ... Cilia 6, 1-18, 2017 | 18 | 2017 |
ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ... bioRxiv, 817213, 2019 | 7 | 2019 |
Analysis of mutational load in Joubert syndrome genes in affected individuals compared to controls IG Phelps, J Dempsey, M Grout, D Doherty, R Bachmann-Gagescu EUROPEAN JOURNAL OF HUMAN GENETICS 27, 366-367, 2019 | | 2019 |