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Human Mutation|November 11, 2017
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motifAndrea S Bock, Sven Günther, Julia Mohr, et al.
Human Mutation|September 30, 2017
The evolution of a Web resource: The Galactosemia Proteins Database 2.0Antonio d'Acierno, Bernardina Scafuri, Angelo Facchiano, et al.
Human Mutation|October 3, 2017
HUMA: A platform for the analysis of genetic variation in humansDavid K Brown, Özlem Tastan Bishop
Human Mutation|October 13, 2017
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathiesZandra A Jenkins, Alison Macharg, Cheng-Yee Chang, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
Human Mutation|September 5, 2017
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defectsSomadri Ghosh, Céline Huber, Quentin Siour, et al.
Human Mutation|November 30, 2018
Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillationMeng Han, Miao Zhao, Chen Cheng, et al.
Human Mutation|November 30, 2018
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathyXiaomin Chen, Jing Jin, Qiongdan Wang, et al.
Human Mutation|January 11, 2019
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutationYan Li, Rachel Furhang, Amanda Ray, et al.
Human Mutation|January 11, 2019
Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approachesSoledad Ochoa, Elizabeth Martínez-Pérez, Diego Javier Zea, et al.
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