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Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
Human Mutation|December 31, 2013
Contribution of SUN1 mutations to the pathomechanism in muscular dystrophiesPing Li, Peter Meinke, Le Thi Thanh Huong, et al.
Human Mutation|December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesityArundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
Human Mutation|September 3, 2014
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFRKristina Brand, Hendrik Kentsch, Christina Glashoff, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Human Mutation|April 27, 2016
Enrichment of SNPs in Functional Categories Reveals Genes Affecting Complex TraitsHuiying Zhao, Dongsheng Fan, Dale R Nyholt, et al.
Human Mutation|June 28, 2016
MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch RepairChristopher J Walker, Mario A Miranda, Matthew J O'Hern, et al.
Human Mutation|November 11, 2015
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic ParaplegiaYing Yang, Wei Liu, Zhipeng Fang, et al.
Human Mutation|November 15, 2013
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencingAdriana Lopez-Doriga, Lídia Feliubadaló, Mireia Menéndez, et al.
Human Mutation|October 17, 2013
High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancersIsrael Zighelboim, David G Mutch, Amy Knapp, et al.
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