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Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.Human Mutation|February 1, 2012
Assessing the enrichment performance in targeted resequencing experimentsPeter Frommolt, Ali T Abdallah, Janine Altmüller, et al.Human Mutation|February 1, 2012
Classification of mismatch repair gene missense variants with PON-MMRHeidi Ali, Ayodeji Olatubosun, Mauno VihinenHuman Mutation|January 7, 2012
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome arrayMatteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, et al.Human Mutation|March 30, 2012
Next-generation sequencing demands next-generation phenotypingRaoul C M Hennekam, Leslie G BieseckerHuman Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.Human Mutation|April 5, 2012
MUTYH gene expression and alternative splicing in controls and polyposis patientsGuido Plotz, Markus Casper, Jochen Raedle, et al.Human Mutation|November 22, 2011
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCDJane S Lucas, Elizabeth C Adam, Patricia M Goggin, et al.Pageof 577