Britt I. Drögemöller

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 274 citations · Full text

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay et al. · The American Journal of Human Genetics · 2019 · 200 citations · Full text

Neurodegenerative Diseases, Genetics, Polyglutamine Size +5

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>

André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond et al. · New England Journal of Medicine · 2019 · 102 citations · Full text

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Karl P. Schlingmann, Sascha Bandulik, Cherry Mammen et al. · The American Journal of Human Genetics · 2018 · 92 citations · Full text

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac et al. · Brain · 2018 · 85 citations · Full text