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Human Mutation|December 8, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and ConsiderationsSilvia Caroselli, Giulia Corona, Marco Fabiani, et al.
Human Mutation|November 8, 2012
High-specificity single-tube multiplex genotyping using Ribo-PAP PCR, tag primers, alkali cleavage of RNA/DNA chimeras and MALDI-TOF MSFlorence Mauger, David H Gelfand, Amar Gupta, et al.
Human Mutation|September 12, 2012
Inverted low-copy repeats and genome instability--a genome-wide analysisPiotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
Human Mutation|October 4, 2012
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov modelsHashem A Shihab, Julian Gough, David N Cooper, et al.
Human Mutation|October 16, 2012
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapiesAlexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, et al.
Human Mutation|October 16, 2012
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorderErik G Puffenberger, Robert N Jinks, Heng Wang, et al.
Human Mutation|October 16, 2012
MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generationsPetter Schandl Sanaker, Laurence A Bindoff
Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.
Human Mutation|July 12, 2020
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromeHsiao-Jung Kao, Hung-Lun Chiang, Hsiao-Huei Chen, et al.
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