Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Cilia  [Clear All Filters]
2020
Le, T. - L. et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet 106, 779-792 (2020).
Vece, T. J. et al. Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 55, 130-135 (2020).
Latour, B. L. et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Bustamante-Marin, X. M. et al. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65, 175-180 (2020).
Bustamante-Marin, X. M. et al. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 16, e1008691 (2020).
2019
Bustamante-Marin, X. M. et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet 104, 229-245 (2019).
Davis, S. D. et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
2017
Van De Weghe, J. C. et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
2016
Zhang, W. et al. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25, 4012-4020 (2016).
S Taylor, P. et al. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet 25, 3998-4011 (2016).
2015
S Taylor, P. et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
2014
Shapiro, A. J. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 146, 1176-1186 (2014).
Akizu, N. et al. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet 94, 80-6 (2014).
Knowles, M. R. et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 189, 707-17 (2014).
2013
Hjeij, R. et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).