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Human Mutation|June 17, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disordersEline Overwater, Luisa Marsili, Marieke J H Baars, et al.
Human Mutation|June 9, 2018
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiencyEdoardo Giacopuzzi, Mattia Laffranchi, Romina Berardelli, et al.
Human Mutation|June 3, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.
Human Mutation|February 10, 2015
AmpliVar: mutation detection in high-throughput sequence from amplicon-based librariesArthur L Hsu, Olga Kondrashova, Sebastian Lunke, et al.
Human Mutation|February 4, 2015
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasiaEyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, et al.
Human Mutation|June 12, 2014
Toward male individualization with rapidly mutating y-chromosomal short tandem repeatsKaye N Ballantyne, Arwin Ralf, Rachid Aboukhalid, et al.
Human Mutation|February 14, 2015
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)Frida Jonsson, Berit Byström, Alice E Davidson, et al.
Human Mutation|February 14, 2015
mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasetsShamsudheen Karuthedath Vellarikkal, Heena Dhiman, Kandarp Joshi, et al.
Human Mutation|March 3, 2015
The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutationXiao-Nan Zhao, Karen Usdin
Human Mutation|March 3, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRoberta R Lemos, Eliana M Ramos, Andrea Legati, et al.
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