Jorge L. Granadillo

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof et al. · Genetics in Medicine · 2021 · 190 citations · Full text

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Víctor Faúndes, Martin D. Jennings, Siobhan Crilly et al. · Nature Communications · 2021 · 63 citations · Full text

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

Variable cardiovascular phenotypes associated with <i>SMAD2</i> pathogenic variants

Jorge L. Granadillo, Wendy K. Chung, Leah Hecht et al. · Human Mutation · 2018 · 35 citations

Vascular Disease, Short Stature, Genetics +17

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Sakshi Singh, Aditi Gupta, Michael Zech et al. · Genetics in Medicine · 2020 · 30 citations · Full text