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Epilepsy Research|January 9, 2021
Contribution of rare genetic variants to drug response in absence epilepsyKenneth A Myers, Mark F Bennett, Bronwyn E Grinton, et al.European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.Biorxiv : the Preprint Server for Biology|April 17, 2026
A computational model for quantifying instability of tandem repeats across the genomeEgor Dolzhenko, Adam English, Tom Mokveld, et al.Annals of Clinical and Translational Neurology|May 18, 2021
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEPMing S Soh, Richard D Bagnall, Mark F Bennett, et al.Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.Rheumatology (Oxford, England)|June 6, 2017
Transcriptional profiles of JIA patient blood with subsequent poor response to methotrexateHalima Moncrieffe, Mark F Bennett, Monica Tsoras, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2022
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year StudyAngela Rosenbohm, Hendrik Pott, Mirja Thomsen, et al.American Journal of Human Genetics|July 8, 2017
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar AtaxiaAna I Seixas, Joana R Loureiro, Cristina Costa, et al.Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.Brain Communications|November 21, 2025
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.Pageof 9