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Human Mutation|February 4, 2016
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 IsoformM'hamed Grati, Denise Yan, Manmeet H Raval, et al.Human Mutation|February 4, 2016
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi AnemiaFrank X Donovan, Danielle C Kimble, Yonghwan Kim, et al.Human Mutation|February 5, 2016
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA SubstitutionDavid Salgado, Jean-Pierre Desvignes, Ghadi Rai, et al.Human Mutation|February 6, 2016
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH DomainLaurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, et al.Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.Human Mutation|January 19, 2016
Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition GenesSetareh Moghadasi, Diana M Eccles, Peter Devilee, et al.Human Mutation|December 24, 2015
MESP1 Mutations in Patients with Congenital Heart DefectsPetra Werner, Brande Latney, Matthew A Deardorff, et al.Human Mutation|December 25, 2015
ECGene: A Literature-Based Knowledgebase of Endometrial Cancer GenesMin Zhao, Yining Liu, Tracy A O'MaraHuman Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.Human Mutation|February 12, 2016
CoNVaDING: Single Exon Variation Detection in Targeted NGS DataLennart F Johansson, Freerk van Dijk, Eddy N de Boer, et al.Pageof 583