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Human Mutation|June 15, 2013
Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: applications in tumor subclone resolutionLucy F Stead, Kate M Sutton, Graham R Taylor, et al.Human Mutation|June 28, 2013
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizuresCatharine E Krebs, Siamak Karkheiran, James C Powell, et al.Human Mutation|June 28, 2013
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismMarialuisa Quadri, Mingyan Fang, Marina Picillo, et al.Human Mutation|November 5, 2013
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlationsAlessandro Pecci, Catherine Klersy, Paolo Gresele, et al.Human Mutation|September 10, 2013
A short-read multiplex sequencing method for reliable, cost-effective and high-throughput genotyping in large-scale studiesHongzhi Cao, Yu Wang, Wei Zhang, et al.Human Mutation|September 10, 2013
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutationsK Joeri van der Velde, Herschel S Dhekne, Morris A Swertz, et al.Human Mutation|October 15, 2013
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in QatarJuan L Rodriguez-Flores, Khalid Fakhro, Neil R Hackett, et al.Human Mutation|October 17, 2013
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genesYing Qiao, Kajari Mondal, Valentina Trapani, et al.Human Mutation|October 30, 2013
Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosomeMannis van Oven, Anneleen Van Geystelen, Manfred Kayser, et al.Human Mutation|August 6, 2013
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academiaCatherine L Bladen, Karen Rafferty, Volker Straub, et al.Pageof 583