Georgios Kellaris

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 341 citations · Full text

Genetics, Pharmacogenomics, Genomics +3

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig et al. · Human Genomics · 2018 · 69 citations · Full text

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · 2021 · 53 citations · Full text

Neurogenomics, Genetics, Disease Gene Identification +19

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Benjamin Cogné, Xénia Latypova, Lokuliyanage Dona Samudita Senaratne et al. · The American Journal of Human Genetics · 2020 · 51 citations · Full text

Systems Biology, Genetic Disorder, Medicine +7

Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris et al. · Brain · 2021 · 39 citations · Full text