Satish Agadi

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Piotr Dittwald, Tomasz Gambin, Przemysław Szafrański et al. · Genome Research · 2013 · 143 citations · Full text

Time from convulsive status epilepticus onset to anticonvulsant administration in children

Iván Sánchez Fernández, Nicholas S. Abend, Satish Agadi et al. · Neurology · 2015 · 124 citations · Full text

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi et al. · Human Mutation · 2019 · 62 citations · Full text

Immunology, Glycobiology, Molecular Biology +25

<i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Kyle Metz, Xinchen Teng, Isabelle Coppens et al. · Annals of Neurology · 2018 · 57 citations · Full text

Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency

J. Lloyd Holder, Satish Agadi, William G. Reese et al. · JAMA Neurology · 2014 · 23 citations