Carlos E. Prada

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

Carlos E. Prada, Fatima Rangwala, Lisa J. Martin et al. · The Journal of Pediatrics · 2011 · 172 citations

Medicine, Neurology, Pediatrics +14

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Hyung-Lok Chung, Michael F. Wangler, Paul C. Marcogliese et al. · Neuron · 2020 · 163 citations · Full text

Life Sciences, Genetics, Neuroscience +8

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition

Carlos E. Prada, Edwin Jousma, Tilat A. Rizvi et al. · Acta Neuropathologica · 2012 · 142 citations · Full text

Medicine, Oncology, Pharmacology +16

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17