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Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPerciliz L Tan, Travis Barr, Peter N Inglis, et al.
American Journal of Human Genetics|August 6, 2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60Aideen M McInerney-Leo, Miriam Schmidts, Claudio R Cortés, et al.
Frontiers in Immunology|July 11, 2018
CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-αChristopher J M Piper, Meredyth G Ll Wilkinson, Claire T Deakin, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Nature|October 2, 2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeStephen J Ansley, Jose L Badano, Oliver E Blacque, et al.
Genes & Development|July 3, 2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportOliver E Blacque, Michael J Reardon, Chunmei Li, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Human Molecular Genetics|February 13, 2014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defectsAlexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, et al.
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