Jodi Warman‐Chardon

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter et al. · Orphanet Journal of Rare Diseases · 2012 · 159 citations · Full text

Life Sciences, Genetics, Neurology +17

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella et al. · Annals of Clinical and Translational Neurology · 2019 · 130 citations · Full text

Life Sciences, Neuroscience, Pathology +17

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu et al. · Human Mutation · 2013 · 100 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Clinical and genetic study of hereditary spastic paraplegia in Canada

Nicolas Chrestian, Nicolas Dupré, Ziv Gan‐Or et al. · Neurology Genetics · 2016 · 98 citations · Full text

Life Sciences, Genetics, Neurology +10

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Miao Sun, Amy Knight Johnson, Viswateja Nelakuditi et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15