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Human Mutation|October 2, 2026
A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental DisordersJing-Wen Chen, Ying-Chun Lin, Ping Hu, et al.
Human Mutation|October 24, 2026
CCR5, CD163, CSF1R, and FCGR3A as Candidate Biomarkers Associated With Mitophagy in AtherosclerosisJiadong Fu, Yongda Dong
Human Mutation|September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
Human Mutation|October 17, 2022
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testingHannie C W Douben, Mark Nellist, Leontine van Unen, et al.
Human Mutation|November 6, 2022
KBTBD13 is a novel cardiomyopathy geneJosine M de Winter, Karlijn Bouman, Joshua Strom, et al.
Human Mutation|November 26, 2014
Single nucleotide differences (SNDs) continue to contaminate the dbSNP database with consequences for human genomics and healthJonathan W Arthur, Florence S G Cheung, Juergen K V Reichardt
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Human Mutation|November 1, 2015
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital SyndromeNatalia A Shylo, Kasey J Christopher, Alejandro Iglesias, et al.
Human Mutation|June 21, 2016
DCDC2 Mutations Cause Neonatal Sclerosing CholangitisMuriel Girard, Albane A Bizet, Alain Lachaux, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
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