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Orphanet Journal of Rare Diseases|May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.Clinical Genetics|July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate geneClarisse Billon, Arnaud Molin, Céline Poirsier, et al.Nature Genetics|July 26, 2017
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitriesValentina Boeva, Caroline Louis-Brennetot, Agathe Peltier, et al.American Journal of Human Genetics|July 14, 2015
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeCaroline Alby, Kevin Piquand, Céline Huber, et al.Human Mutation|August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathySophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.Pageof 9