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Human Mutation|January 3, 2013
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndromeZeynep Tümer
Human Mutation|January 3, 2013
A genome-wide assessment of variability in human serum metabolismMun-Gwan Hong, Robert Karlsson, Patrik K E Magnusson, et al.
Human Mutation|December 21, 2012
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsNadia A Akawi, Fuat E Canpolat, Susan M White, et al.
Human Mutation|January 15, 2013
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian familyMuhammad Farooq, Mazen Kurban, Atsushi Fujimoto, et al.
Human Mutation|January 15, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.
Human Mutation|March 31, 2012
More single-nucleotide mutations surround small insertions than small deletions in primatesShengfeng Huang, Ting Yu, Zelin Chen, et al.
Human Mutation|March 31, 2012
Mutation update on the CHD7 gene involved in CHARGE syndromeNicole Janssen, Jorieke E H Bergman, Morris A Swertz, et al.
Human Mutation|March 31, 2012
Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC developmentGerben Duns, Robert M W Hofstra, Jantine G Sietzema, et al.
Human Mutation|March 31, 2012
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndromeHeleen M van der Klift, Carli M Tops, Frederik J Hes, et al.
Human Mutation|February 5, 2013
Making sense of intratumor genetic heterogeneity: altered frequency of androgen receptor CAG repeat length variants in breast cancer tissuesBruce Gottlieb, Carlos Alvarado, Chunlin Wang, et al.
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