Katy Barwick

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

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

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Katy Barwick, Jane Wright, Saeed Al-Turki et al. · The American Journal of Human Genetics · 2012 · 107 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Emma L. Baple, Reza Maroofian, Barry A. Chioza et al. · The American Journal of Human Genetics · 2013 · 54 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +17

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher et al. · Genetics in Medicine · 2020 · 47 citations · Full text

Life Sciences, Genetics, Neuroscience +13