| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 239 | 2019 |
| SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy DRM Vlaskamp, BJ Shaw, R Burgess, D Mei, M Montomoli, H Xie, ... Neurology 92 (2), e96-e107, 2019 | 194 | 2019 |
| ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA van Vugt, ... Genome Biology 21 (1), 102, 2020 | 168 | 2020 |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 142 | 2023 |
| Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 RT Florian, F Kraft, E Leitão, S Kaya, S Klebe, E Magnin, ... Nature Communications 10 (1), 1-14, 2019 | 142 | 2019 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature Communications 10 (1), 1-10, 2019 | 137 | 2019 |
| Recent advances in the detection of repeat expansions with short-read next-generation sequencing M Bahlo, MF Bennett, P Degorski, RM Tankard, MB Delatycki, PJ Lockhart F1000Research 7, F1000 Faculty Rev-736, 2018 | 129 | 2018 |
| Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data RM Tankard, MF Bennett, P Degorski, MB Delatycki, PJ Lockhart, M Bahlo The American Journal of Human Genetics 103 (6), 858-873, 2018 | 123 | 2018 |
| Connecting omics signatures and revealing biological mechanisms with iLINCS M Pilarczyk, M Fazel-Najafabadi, M Kouril, B Shamsaei, J Vasiliauskas, ... Nature Communications 13 (1), 1-13, 2022 | 106* | 2022 |
| CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis C Dobson-Stone, M Hallupp, H Shahheydari, AMG Ragagnin, ... Brain 143 (3), 783-799, 2020 | 81 | 2020 |
| Continuous-wave gravitational radiation from pulsar glitch recovery MF Bennett, CA Van Eysden, A Melatos Monthly Notices of the Royal Astronomical Society 409 (4), 1705-1718, 2010 | 67 | 2010 |
| Genes4Epilepsy: an epilepsy gene resource KL Oliver, IE Scheffer, MF Bennett, BE Grinton, M Bahlo, SF Berkovic Epilepsia 64 (5), 1368-1375, 2023 | 66 | 2023 |
| Stochastic gravitational wave background from hydrodynamic turbulence<? format?> in differentially rotating neutron stars PD Lasky, MF Bennett, A Melatos Physical Review D—Particles, Fields, Gravitation, and Cosmology 87 (6), 063004, 2013 | 63 | 2013 |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns H Stamberger, TB Hammer, E Gardella, DRM Vlaskamp, B Bertelsen, ... Genetics in medicine 23 (2), 363-373, 2021 | 54 | 2021 |
| Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome A Palencia-Campos, PC Aoto, EMF Machal, A Rivera-Barahona, ... The American Journal of Human Genetics 107 (5), 977-988, 2020 | 44 | 2020 |
| Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development A Kaspi, MS Hildebrand, VE Jackson, R Braden, O Van Reyk, T Howell, ... Molecular psychiatry 28 (4), 1647-1663, 2023 | 41 | 2023 |
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, ... Genome Medicine 14 (1), 1-10, 2022 | 37 | 2022 |
| Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families MF Bennett, KL Oliver, BM Regan, ST Bellows, AL Schneider, H Rafehi, ... European Journal of Human Genetics 28 (7), 973–978, 2020 | 34 | 2020 |
| Somatic mosaic pathogenic variant gradient detected in trace brain tissue from stereo-EEG depth electrodes Z Ye, MF Bennett, A Neal, JA Laing, MK Hunn, T Wittayacharoenpong, ... Neurology 99 (23), 1036-1041, 2022 | 27 | 2022 |
| Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania TL Ware, SR Huskins, BE Grinton, YC Liu, MF Bennett, M Harvey, ... Epilepsia Open 4 (3), 504-510, 2019 | 26 | 2019 |