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Human Mutation|February 5, 2009
No association between CALHM1 and risk for Alzheimer dementia in a Belgian populationKristel Sleegers, Nathalie Brouwers, Karolien Bettens, et al.Human Mutation|November 20, 2010
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172BGladys Ho, Atsushi Yonezawa, Satohiro Masuda, et al.Human Mutation|November 20, 2010
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collectionGeorge P Patrinos, Jumana Al Aama, Aida Al Aqeel, et al.Human Mutation|November 20, 2010
Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibrominStefan Welti, Sonja Kühn, Igor D'Angelo, et al.Human Mutation|December 2, 2010
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndromeTracy Busse, John M Graham, Gerald Feldman, et al.Human Mutation|December 2, 2010
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Häberle, Oleg A Shchelochkov, Jing Wang, et al.Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.Human Mutation|April 6, 2013
A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndromeHelena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, et al.Human Mutation|March 14, 2013
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegiaRita-Eva Varga, Rebecca Schüle, Hicham Fadel, et al.Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.Pageof 575