Walter E. Kaufmann

<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar et al. · Journal of Medical Genetics · 2014 · 315 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Daniel G. Glaze, Jeffrey L. Neul, Walter E. Kaufmann et al. · Neurology · 2019 · 168 citations · Full text

Pharmacy, Pediatrics, Pharmacology +13

Social impairments in Rett syndrome: characteristics and relationship with clinical severity

Walter E. Kaufmann, Elaine Tierney, Charles A. Rohde et al. · Journal of Intellectual Disability Research · 2011 · 136 citations · Full text

Education, Psychiatry, Psychology +13

Longitudinal course of epilepsy in Rett syndrome and related disorders

Daniel Tarquinio, Wei Hou, Anne T. Berg et al. · Brain · 2016 · 129 citations · Full text

Medicine, Genetics, Neurology +9

The course of awake breathing disturbances across the lifespan in Rett syndrome

Daniel Tarquinio, Wei Hou, Jeffrey L. Neul et al. · Brain and Development · 2018 · 99 citations · Full text

Medicine, Neurology, Physiology +14