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Human Mutation|July 16, 2008
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motifNick M Makridakis, Lúcio Fábio Caldas Ferraz, Juergen K V ReichardtHuman Mutation|July 19, 2008
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutationsW Edward Visser, Jurgen Jansen, Edith C H Friesema, et al.Human Mutation|July 30, 2008
Microarray-based mutation detection in the dystrophin geneMadhuri R Hegde, Ephrem L H Chin, Jennifer G Mulle, et al.Human Mutation|June 19, 2008
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defectsIsabelle Tournier, Myriam Vezain, Alexandra Martins, et al.Human Mutation|June 19, 2008
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair formChunyan Mou, Helen A Thomason, Pamela M Willan, et al.Human Mutation|June 20, 2008
SLC45A2: a novel malignant melanoma-associated geneL P Fernandez, R L Milne, G Pita, et al.Human Mutation|July 18, 2008
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer riskM Mitui, S A Nahas, L T Du, et al.Human Mutation|June 24, 2008
Somatic mosaicism for copy number variation in differentiated human tissuesArkadiusz Piotrowski, Carl E G Bruder, Robin Andersson, et al.Human Mutation|August 28, 2007
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndromeAudrey McAlinden, Marja Majava, Paul N Bishop, et al.Human Mutation|July 12, 2007
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delayWiktor Borozdin, John M Graham, Detlef Böhm, et al.Pageof 583