| Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens L Henden, S Lee, I Mueller, A Barry, M Bahlo PLoS genetics 14 (5), e1007279, 2018 | 85 | 2018 |
| Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis EP McCann, L Henden, JA Fifita, KY Zhang, N Grima, DC Bauer, SCM Fat, ... Journal of medical genetics 58 (2), 87-95, 2021 | 81 | 2021 |
| EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO M Skopkova, F Hennig, BS Shin, CE Turner, D Stanikova, K Brennerova, ... Human mutation 38 (4), 409-425, 2017 | 72 | 2017 |
| Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2 L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ... Human genetics 135, 1117-1125, 2016 | 38 | 2016 |
| Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases L Henden, NA Twine, P Szul, EP McCann, GA Nicholson, DB Rowe, ... NPJ genomic medicine 5 (1), 32, 2020 | 26 | 2020 |
| The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration S Opie-Martin, A Iacoangeli, SD Topp, O Abel, K Mayl, PR Mehta, ... Nature communications 13 (1), 6901, 2022 | 25 | 2022 |
| XIBD: software for inferring pairwise identity by descent on the X chromosome L Henden, D Wakeham, M Bahlo Bioinformatics 32 (15), 2389-2391, 2016 | 24 | 2016 |
| Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome M Shaw, TY Yap, L Henden, M Bahlo, A Gardner, VM Kalscheuer, E Haan, ... European journal of medical genetics 58 (6-7), 364-368, 2015 | 19 | 2015 |
| Effects of stress associated with academic examination on the kynurenine pathway profile in healthy students K Myint, K Jacobs, AM Myint, SK Lam, L Henden, SZ Hoe, GJ Guillemin PLoS One 16 (6), e0252668, 2021 | 13 | 2021 |
| Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia L Henden, LG Fearnley, N Grima, EP McCann, C Dobson-Stone, ... Science Advances 9 (18), eade2044, 2023 | 12 | 2023 |
| Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis AL Hogan, N Grima, JA Fifita, EP McCann, B Heng, SCM Fat, S Wu, ... Neuropathology and Applied Neurobiology 47 (7), 990-1003, 2021 | 12 | 2021 |
| Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice EP McCann, JA Fifita, N Grima, J Galper, P Mehta, SE Freckleton, ... Journal of Neurology, Neurosurgery & Psychiatry 91 (2), 162-171, 2020 | 10 | 2020 |
| Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis SCM Fat, EP McCann, KL Williams, L Henden, NA Twine, DC Bauer, ... Neurobiology of Aging 101, 297. e9-297. e11, 2021 | 7 | 2021 |
| Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression M Kalia, M Miotto, D Ness, S Opie-Martin, TP Spargo, L Di Rienzo, ... Computational and Structural Biotechnology Journal 21, 5296-5308, 2023 | 6 | 2023 |
| SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis AL Hogan, N Grima, JA Fifita, EP McCann, B Heng, SCM Fat, R Maharjan, ... bioRxiv, 2020.09. 22.309062, 2020 | 6 | 2020 |
| Detecting selection signals in Plasmodium falciparum using identity-by-descent analysis L Henden, S Lee, I Mueller, A Barry, M Bahlo BioRxiv, 2016 | 6 | 2016 |
| Hum Mutat. 2017 April; 38 (4): 409-425 M Skopkova, F Hennig, BS Shin, CE Turner, D Stanikova, K Brennerova, ... EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability …, 0 | 6 | |
| Clinical testing panels for ALS: global distribution, consistency, and challenges AA Dilliott, A Al Nasser, M Elnagheeb, J Fifita, L Henden, IM Keseler, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24 (5-6), 420-435, 2023 | 5 | 2023 |
| RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: considerations for biomarker discovery N Grima, S Liu, D Southwood, L Henden, A Smith, A Lee, DB Rowe, ... Neuropathology and Applied Neurobiology 49 (6), e12943, 2023 | 3 | 2023 |
| Simultaneous isolation of high-quality RNA and DNA from postmortem human central nervous system tissues for omics studies N Grima, L Henden, O Watson, IP Blair, KL Williams Journal of Neuropathology & Experimental Neurology 81 (2), 135-145, 2022 | 3 | 2022 |
