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Human Mutation|July 26, 2017
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disordersElliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, et al.
Human Mutation|August 18, 2017
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnosticsLaurens Wiel, Hanka Venselaar, Joris A Veltman, et al.
Human Mutation|July 12, 2016
MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with CancerIgnasi Torruella-Loran, Hafid Laayouni, Begoña Dobon, et al.
Human Mutation|July 14, 2016
Fourth Generation of Next-Generation Sequencing Technologies: Promise and ConsequencesRongqin Ke, Marco Mignardi, Thomas Hauling, et al.
Human Mutation|August 2, 2017
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cellsJudith Böhringer, René Santer, Neele Schumacher, et al.
Human Mutation|June 23, 2016
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics DataLiacine Bouaoun, Dmitriy Sonkin, Maude Ardin, et al.
Human Mutation|July 20, 2017
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigreeKathryn Hendee, Lauren Weiping Wang, Linda M Reis, et al.
Human Mutation|May 14, 2016
A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal CancersHusen M Umer, Marco Cavalli, Michal J Dabrowski, et al.
Human Mutation|June 15, 2016
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal HyperplasiaWuyan Chen, Ashley F Perritt, Rachel Morissette, et al.
Human Mutation|May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation PatternNathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
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