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Human Mutation|April 23, 2014
Performance of protein disorder prediction programs on amino acid substitutionsHeidi Ali, Siddhaling Urolagin, Ömer Gurarslan, et al.Human Mutation|April 25, 2014
Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 geneMeng-Chang Hsiao, Arkadiusz Piotrowski, John Alexander, et al.Human Mutation|March 12, 2014
Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variantDanielle N Meadows, Michal Pyzik, Qing Wu, et al.Human Mutation|March 13, 2014
A frameshift mutation in GRXCR2 causes recessively inherited hearing lossAyesha Imtiaz, David C Kohrman, Sadaf NazHuman Mutation|March 29, 2014
Jannovar: a java library for exome annotationMarten Jäger, Kai Wang, Sebastian Bauer, et al.Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.Human Mutation|March 26, 2014
Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathyCarl Schubert, Anders Pryds, Shemin Zeng, et al.Human Mutation|May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux, Valérie Faugère, Lise Larrieu, et al.Human Mutation|May 20, 2008
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcificationSook-Kyung Lee, Jan C-C Hu, John D Bartlett, et al.Human Mutation|May 20, 2008
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)María D Herrero-Martín, Mercedes Pineda, Paz Briones, et al.Pageof 578