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Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Defining a tandem repeat catalog and variation clusters for genome-wide analysesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Neurology|May 26, 2021
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
Archives of Neurology|October 10, 2007
Asian origin for the worldwide-spread mutational event in Machado-Joseph diseaseSandra Martins, Francesc Calafell, Claudia Gaspar, et al.
Trends in Microbiology|December 8, 2020
Joining European Scientific Forces to Face PandemicsM Helena Vasconcelos, Stefano Alcaro, Virginia Arechavala-Gomeza, et al.
Human Molecular Genetics|February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsTimothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Nature Communications|August 9, 2022
Connecting omics signatures and revealing biological mechanisms with iLINCSMarcin Pilarczyk, Mehdi Fazel-Najafabadi, Michal Kouril, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
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