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Human Mutation|January 14, 2020
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractionsNicolas Doisne, Victor Waldmann, Alban Redheuil, et al.Human Mutation|January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduriaMatthias Zielonka, Sven F Garbade, Florian Gleich, et al.Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.Human Mutation|February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophyRaquel S Silva, Gavin Arno, Valentina Cipriani, et al.Human Mutation|February 6, 2019
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filteringThierry Soussi, Bernard Leroy, Michal Devir, et al.Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.Human Mutation|December 18, 2018
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detectionMark J Cowley, Yu-Chi Liu, Karen L Oliver, et al.Human Mutation|December 22, 2018
Molecular subtyping of gastric cancer combining genetic and epigenetic anomalies provides distinct clinicopathological features and prognostic impactsTomomitsu Tahara, Sayumi Tahara, Noriyuki Horiguchi, et al.Human Mutation|December 25, 2018
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression patternRojeen Niazi, Elizabeth A Fanning, Christel Depienne, et al.Human Mutation|January 4, 2020
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemiaVinod Gupta, Anuja Kulkarni, Prashant Warang, et al.Pageof 583