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Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
Human Mutation|March 19, 2013
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharingAnnet Sollie, Rolf H Sijmons, Dick Lindhout, et al.
Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
Human Mutation|May 25, 2013
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expressionMathilde Keck, Olga Andrini, Olivier Lahuna, et al.
Human Mutation|June 13, 2013
Functional interaction between SNPs and microsatellite in the transcriptional regulation of insulin-like growth factor 1Holly Y Chen, Wei Huang, Vincent H K Leung, et al.
Human Mutation|June 13, 2013
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic dataLora J H Bean, Stuart W Tinker, Cristina da Silva, et al.
Human Mutation|March 21, 2012
Back to the future: from genome to metabolomeJoseph V Thakuria, Alexander W Zaranek, George M Church, et al.
Human Mutation|September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferré, Angélique Caignard, Dan Milea, et al.
Human Mutation|August 16, 2014
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyPatrick Forny, D Sean Froese, Terttu Suormala, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
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