| De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 329 | 2015 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 220 | 2016 |
| DNM1 encephalopathy: A new disease of vesicle fission S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ... Neurology 89 (4), 385-394, 2017 | 126 | 2017 |
| Identification of molecular genetic factors that influence migraine BH Maher, LR Griffiths Molecular Genetics and Genomics 285 (6), 433-446, 2011 | 84 | 2011 |
| De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy IM de Lange, KL Helbig, S Weckhuysen, RS Møller, M Velinov, ... Journal of medical genetics 53 (12), 850-858, 2016 | 77 | 2016 |
| Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy C Leu, S Balestrini, B Maher, L Hernández-Hernández, P Gormley, ... EBioMedicine 2 (9), 1063-1070, 2015 | 75 | 2015 |
| Worldwide Soundscapes: a synthesis of passive acoustic monitoring across realms KFA Darras, RA Rountree, SL Van Wilgenburg, AF Cord, F Pitz, Y Chen, ... Global Ecology and Biogeography 34 (5), e70021, 2025 | 39 | 2025 |
| Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree AJ Rodriguez-Acevedo, BH Maher, RA Lea, M Benton, LR Griffiths Cephalalgia 33 (14), 1139-1147, 2013 | 38 | 2013 |
| Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene T Esposito, RA Lea, BH Maher, D Moses, HC Cox, S Magliocca, A Angius, ... Human Molecular Genetics 22 (18), 3654-3666, 2013 | 37 | 2013 |
| Investigation of brain‐derived neurotrophic factor (BDNF) gene variants in migraine HG Sutherland, BH Maher, AJ Rodriguez‐Acevedo, LM Haupt, ... Headache: The Journal of Head and Face Pain 54 (7), 1184-1193, 2014 | 36 | 2014 |
| BDNF and TNF-α polymorphisms in memory BS Yogeetha, LM Haupt, K McKenzie, HG Sutherland, RK Okolicsyani, ... Molecular biology reports 40 (9), 5483-5490, 2013 | 35 | 2013 |
| Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case‐Control Cohort BH Maher, RA Lea, J Follett, HC Cox, F Fernandez, T Esposito, ... Headache: The Journal of Head and Face Pain 53 (8), 1245-1249, 2013 | 32 | 2013 |
| The NRP1 migraine risk variant shows evidence of association with menstrual migraine CE Pollock, HG Sutherland, BH Maher, RA Lea, LM Haupt, A Frith, ... The Journal of Headache and Pain 19 (1), 31, 2018 | 28 | 2018 |
| Tiered analysis of whole-exome sequencing for epilepsy diagnosis PJ Dunn, BH Maher, CL Albury, S Stuart, HG Sutherland, N Maksemous, ... Molecular Genetics and Genomics 295 (3), 751-763, 2020 | 26 | 2020 |
| An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12 BH Maher, RA Lea, M Benton, HC Cox, C Bellis, M Carless, TD Dyer, ... PLoS One 7 (5), e37903, 2012 | 26 | 2012 |
| Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian Migraine case-control cohort BH Maher, M Taylor, S Stuart, RK Okolicsanyi, B Roy, HG Sutherland, ... Gene 528 (2), 343-346, 2013 | 22 | 2013 |
| Genetic variation in cytokine-related genes and migraine susceptibility S Stuart, BH Maher, H Sutherland, M Benton, A Rodriguez, RA Lea, ... Twin Research and Human Genetics 16 (6), 1079-1086, 2013 | 19 | 2013 |
| Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine N Maksemous, RA Smith, HG Sutherland, BH Maher, O Ibrahim, ... Cephalalgia Reports 2, 2515816319881630, 2019 | 18 | 2019 |
| Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort BH Maher, M Kerr, HC Cox, JC MacMillan, PJ Brimage, T Esposito, ... neurogenetics 13 (1), 97-101, 2012 | 18 | 2012 |
| Case-control study of ADARB1 and ADARB2 gene variants in migraine CF Gasparini, HG Sutherland, B Maher, AJ Rodriguez-Acevedo, E Khlifi, ... The journal of headache and pain 16 (1), 31, 2015 | 13 | 2015 |
