James Stavropoulos

<i>BRAF</i> Mutation and <i>CDKN2A</i> Deletion Define a Clinically Distinct Subgroup of Childhood Secondary High-Grade Glioma

Matthew Mistry, Nataliya Zhukova, Daniele Merico et al. · Journal of Clinical Oncology · 2015 · 285 citations · Full text

Medicine, Genetics, Molecular Genetics +17

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Mohammed Uddin, Brianna K. Unda, Vickie Kwan et al. · The American Journal of Human Genetics · 2018 · 116 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Daria Wojtal, Dwi U. Kemaladewi, Zeenat Malam et al. · The American Journal of Human Genetics · 2015 · 113 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +14

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Daria Grafodatskaya, Barian HY Chung, Darci T. Butcher et al. · BMC Medical Genomics · 2013 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt et al. · Cellular and Molecular Gastroenterology and Hepatology · 2015 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17