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Human Mutation|October 25, 2018
Allele balance bias identifies systematic genotyping errors and false disease associationsFrancesc Muyas, Mattia Bosio, Anna Puig, et al.
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Human Mutation|October 30, 2018
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VIPaola Fortugno, Francesco Angelucci, Gianluca Cestra, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
Human Mutation|November 3, 2016
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeMorteza Seifi, Tim Footz, Sherry A M Taylor, et al.
Human Mutation|November 3, 2016
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley SyndromeFrancesca Novara, Stefan Groeneweg, Elena Freri, et al.
Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.
Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.
Human Mutation|February 5, 2008
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoidsKobra Haghighi, Guoli Chen, Yoji Sato, et al.
Human Mutation|February 23, 2008
Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lungAntonio Marchetti, Lara Felicioni, Giuseppe Pelosi, et al.
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