Anthony Antonellis

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

Maciej T. Małecki, Ulupi S. Jhala, Anthony Antonellis et al. · Nature Genetics · 1999 · 619 citations

Genetic Disorder, Genetics, Diabetes +9

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 555 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 240 citations · Full text

SAP Regulates TH2 Differentiation and PKC-θ-Mediated Activation of NF-κB1

Jennifer L. Cannons, Li J. Yu, Brenna J. Hill et al. · Immunity · 2004 · 230 citations · Full text

Transcriptional Regulation, Signal Transduction, Molecular Physiology +8

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 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7