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Human Mutation|October 9, 2007
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossMichel Guipponi, Min-Yen Toh, Justin Tan, et al.
Human Mutation|August 8, 2008
Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in AmericaRoman Kosoy, Rami Nassir, Chao Tian, et al.
Human Mutation|November 22, 2007
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interferenceJ Etzler, A Peyrl, A Zatkova, et al.
Human Mutation|August 3, 2007
The UK National Cancer Research Institute (NCRI) Informatics Initiative: promoting partnership in cancer researchFiona Reddington, Abi Ajose-Adeogun, Robin Clark
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
Human Mutation|November 23, 2007
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseasesIldiko Szeverenyi, Andrew J Cassidy, Cheuk Wang Chung, et al.
Human Mutation|July 31, 2007
Chasing genes for mood disorders and schizophrenia in genetically isolated populationsTine Venken, Jurgen Del-Favero
Human Mutation|December 6, 2008
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variationBinita M Kamath, Brian D Thiel, Xiaowu Gai, et al.
Human Mutation|December 6, 2008
Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapesFonnet E Bleeker, Simona Lamba, Monica Rodolfo, et al.
Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
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