Radhika Dhamija

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 137 citations · Full text

Life Sciences, Genetics, Neurology +17

Serologic Profiles Aiding the Diagnosis of Autoimmune Gastrointestinal Dysmotility

Radhika Dhamija, K. Meng Tan, Sean J. Pittock et al. · Clinical Gastroenterology and Hepatology · 2008 · 113 citations · Full text

Life Sciences, Immunology, Pathology +14

ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma

Christopher L. Moertel, Angela C. Hirbe, Hans Shuhaiber et al. · Journal of Clinical Oncology · 2024 · 87 citations · Full text

Medicine, Neurology, Neuroscience +7

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17