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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.Human Mutation|November 30, 2011
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1Angelica Nordin, Elin Larsson, Monica HolmbergHuman Mutation|November 11, 2014
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsAlberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, et al.Pageof 583