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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.
Human Mutation|January 3, 2013
The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resourceAmanda B Payne, Connie H Miller, Fiona M Kelly, et al.
Human Mutation|January 3, 2013
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensationNoriko Miyake, Shoji Yano, Chika Sakai, et al.
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