dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

Jeannette M. Osterloh, Jing Yang, Timothy M. Rooney, +19

Science

Genome‐Wide Association Study Confirms SNPs in <i>SNCA</i> and the <i>MAPT</i> Region as Common Risk Factors for Parkinson Disease

Todd L. Edwards, William K. Scott, Cherylyn Almonte, +15

Annals of Human Genetics

Pd Risk LociDisease EtiologyGeneticsGenetic EpidemiologyDisease Gene Identification +15

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Michail Spiliopoulos, Francesco Brancati, Eric Powell, +12

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathology +5

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo, +91

Nature Genetics

Biallelic MutationsSomatic VariantGenetic DisorderGeneticsDiabetes +7

Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities

Adam C. Naj, Gary W. Beecham, Eden R. Martin, +14

PLoS Genetics

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family

Gladys Montenegro, Eric Powell, Jiaqiang Huang, +8

Annals of Neurology

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, +11

PLoS ONE

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

Michael Gonzalez, Rafael F. Acosta Lebrigio, Derek Van Booven, +6

Human Mutation

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

Eden R. Martin, Daniel D. Kinnamon, Michael A. Schmidt, +3

Bioinformatics

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft, +31

The American Journal of Human Genetics

Genome InstabilityMolecular PhysiologyGenetic DisorderGeneticsMolecular Biology +2