Kathryn J. Peall

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Wearable movement-tracking data identify Parkinson’s disease years before clinical diagnosis

Ann‐Kathrin Schalkamp, Kathryn J. Peall, Neil A. Harrison et al. · Nature Medicine · 2023 · 155 citations · Full text

Medicine, Neurology, Neuroscience +16

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik et al. · The American Journal of Human Genetics · 2015 · 149 citations · Full text

Life Sciences, Genetics, Neurology +10

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Kathryn J. Peall, Daniel J. Smıth, Manju A. Kurian et al. · Brain · 2013 · 129 citations · Full text

Life Sciences, Genetics, Psychiatry +15

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 110 citations · Full text

Life Sciences, Genetics, Neurology +17