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Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.Science Translational Medicine|September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor, Annabel Whibley, Christian R Marshall, et al.Journal of Medical Genetics|December 18, 2013
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locusLing Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, et al.Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.Human Molecular Genetics|July 29, 2010
A genome-wide scan for common alleles affecting risk for autismRichard Anney, Lambertus Klei, Dalila Pinto, et al.Nature|June 10, 2010
Functional impact of global rare copy number variation in autism spectrum disordersDalila Pinto, Alistair T Pagnamenta, Lambertus Klei, et al.Pageof 56