Jessica Duis

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 147 citations · Full text

Medicine, Genetics, Molecular Genetics +10

A multidisciplinary approach to the clinical management of Prader–Willi syndrome

Jessica Duis, Pieter Joost van Wattum, Ann Scheimann et al. · Molecular Genetics & Genomic Medicine · 2019 · 108 citations · Full text

Life Sciences, Genetics, Consultation-liaison Psychiatry +12

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Joy D. Cogan, Lynette Rives et al. · American Journal of Medical Genetics Part A · 2020 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>KIF5A</i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Jessica Duis, Shannon L. Dean, Carolyn Applegate et al. · Annals of Neurology · 2016 · 63 citations · Full text

Life Sciences, Genetics, Neurology +17

Gait as a quantitative translational outcome measure in Angelman syndrome

Stela P. Petkova, Anna Adhikari, Elizabeth L. Berg et al. · Autism Research · 2022 · 29 citations · Full text

Education, Neurology, Neuroscience +17