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Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.Human Mutation|April 10, 2013
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnosticsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.Human Mutation|May 3, 2013
Somatic alterations contributing to metastasis of a castration-resistant prostate cancerMichael L Nickerson, Kate M Im, Kevin J Misner, et al.Human Mutation|May 8, 2013
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndromeJennifer J Johnston, Kuo-Kuang Wen, Kim Keppler-Noreuil, et al.Human Mutation|March 7, 2013
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defectsSha Tang, Jing Wang, Victor Wei Zhang, et al.Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.Human Mutation|February 20, 2013
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping levelAbdel Aissat, Alix de Becdelièvre, Lisa Golmard, et al.Human Mutation|February 6, 2013
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR geneCaroline Raynal, David Baux, Corinne Theze, et al.Human Mutation|January 8, 2013
Modeling tumor progression by the sequential introduction of genetic alterations into the genome of human normal cellsDavide Zecchin, Sabrina Arena, Miriam Martini, et al.Pageof 582