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American Journal of Human Genetics|January 10, 2015
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanismsHansjörg Baurecht, Melanie Hotze, Stephan Brand, et al.American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.American Journal of Human Genetics|September 22, 2015
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Ilham Ratbi, Kim D Falkenberg, Manou Sommen, et al.American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.American Journal of Human Genetics|January 11, 2016
Correlations between Synaptic Initiation and Meiotic Recombination: A Study of Humans and MiceJennifer R Gruhn, Nasser Al-Asmar, Rachael Fasnacht, et al.American Journal of Human Genetics|January 11, 2016
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNVMichael H Duyzend, Xander Nuttle, Bradley P Coe, et al.American Journal of Human Genetics|January 11, 2016
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity GenesMatthieu Deschamps, Guillaume Laval, Maud Fagny, et al.American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.American Journal of Human Genetics|July 5, 2014
Genome-wide identification and characterization of fixed human-specific regulatory regionsDavide Marnetto, Ivan Molineris, Elena Grassi, et al.Pageof 979