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Human Mutation|April 19, 2006
Optimization and evaluation of single-cell whole-genome multiple displacement amplificationC Spits, C Le Caignec, M De Rycke, et al.Human Mutation|March 17, 2006
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancyChristel Depienne, Alexis Arzimanoglou, Oriane Trouillard, et al.Human Mutation|March 17, 2006
Determination of genomic copy number with quantitative microsphere hybridizationHeather L Newkirk, Peter K Rogan, Mauricio Miralles, et al.Human Mutation|May 7, 2014
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiologyMonica Sanchez-Contreras, Matthew C Baker, NiCole A Finch, et al.Human Mutation|October 21, 2016
The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical AssociationsElizabeth S Barrie, Katherine Hartmann, Sung-Ha Lee, et al.Human Mutation|February 11, 2014
Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challengeKarin S Kassahn, Hamish S Scott, Melody C CaraminsHuman Mutation|February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac diseaseAli Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.Human Mutation|March 12, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al.Human Mutation|March 7, 2014
The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variationsPhilippe Grandval, Martine Blayau, Marie-Pierre Buisine, et al.Pageof 583