Justin D. Wagner

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nícolas C. Hoch, Hana Hanzlíková, Stuart L. Rulten et al. · Nature · 2016 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 159 citations

Life Sciences, Genetics, Neurology +17

Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy

Sarah L. Sawyer, Andy Cheuk‐Him Ng, A. Micheil Innes et al. · Human Molecular Genetics · 2015 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

Taila Hartley, Justin D. Wagner, Jodi Warman‐Chardon et al. · Clinical Genetics · 2017 · 59 citations

Life Sciences, Genetics, Neurology +17

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Devon L. Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami et al. · Human Molecular Genetics · 2017 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17