Author

Georgios Kellaris

Lurie Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Erica E. DavisiD· 2 shared Farid UllahiD· 2 shared Alexandre ReymondiD· 1 shared Andrea AccogliiD· 1 shared Andres MetspaluiD· 1 shared Andrew T. Powell· 1 shared Aura Janze· 1 shared Benjamin M. NealeiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Erica E. DavisORCID

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2 papers

Recent·Most cited

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan, Sri Varsha Kodiparthi, Georgios Kellaris, Hazel G. White, Andrew T. Powell, Sandrina P. Correia, Tommy Stödberg, Christalena Sofocleous, Nikolaos M. Marinakis, Helen Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos, , Martha R. C. Bhattacharya

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

The American Journal of Human Genetics · Aug 29, 2025Peer-reviewedGenetic & Genomic Medicine

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda C. Brandon, Christopher Lauricella, Lide Han, Theodore J. Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack M. Fu, Konrad J. Karczewski, , Michael E. Talkowski

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Cell · Aug 1, 2022Peer-reviewedGenetic & Genomic Medicine