| Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ... Nature communications 12 (1), 3417, 2021 | 231 | 2021 |
| 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, 2018 | 124 | 2018 |
| Genetic variants associated with longitudinal changes in brain structure across the lifespan RM Brouwer, M Klein, KL Grasby, HG Schnack, N Jahanshad, J Teeuw, ... Nature neuroscience 25 (4), 421-432, 2022 | 120 | 2022 |
| 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 | 120 | 2018 |
| Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance APL Marsh, D Heron, TJ Edwards, A Quartier, C Galea, C Nava, ... Nature genetics 49 (4), 511-514, 2017 | 102 | 2017 |
| Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease MG Duperron, MJ Knol, Q Le Grand, TE Evans, A Mishra, A Tsuchida, ... Nature medicine 29 (4), 950-962, 2023 | 40 | 2023 |
| Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss APL Marsh, V Lukic, K Pope, C Bromhead, R Tankard, MM Ryan, EM Yiu, ... Neurology: Genetics 1 (2), e16, 2015 | 37 | 2015 |
| PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy MS Hildebrand, R Tankard, EV Gazina, JA Damiano, KM Lawrence, ... Annals of clinical and translational neurology 2 (8), 821-830, 2015 | 34 | 2015 |
| Pathogenic variants in GPC4 cause Keipert syndrome DJ Amor, SEM Stephenson, M Mustapha, MA Mensah, CW Ockeloen, ... The American Journal of Human Genetics 104 (5), 914-924, 2019 | 31 | 2019 |
| Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency DJ Amor, APL Marsh, E Storey, R Tankard, G Gillies, MB Delatycki, ... Neurology: Genetics 2 (6), e114, 2016 | 24 | 2016 |
| Dynamics of brain structure and its genetic architecture over the lifespan RM Brouwer, NEM van Haren, MD Forti, LH van den Berg, BWJH Penninx, ... Strukturelle und funktionelle Organisation des Gehirns, 2020 | 18 | 2020 |
| Challenges of diagnostic exome sequencing in an inbred founder population DN Azmanov, T Chamova, R Tankard, V Gelev, M Bynevelt, L Florez, ... Molecular genetics & genomic medicine 1 (2), 71-76, 2013 | 18 | 2013 |
| Using familial information for variant filtering in high-throughput sequencing studies M Bahlo, R Tankard, V Lukic, KL Oliver, KR Smith Human Genetics 133, 1331-1341, 2014 | 16 | 2014 |
| Comprehensive analysis of epigenetic clocks reveals associations between disproportionate biological ageing and hippocampal volume L Milicic, M Vacher, T Porter, V Doré, SC Burnham, P Bourgeat, ... Geroscience 44 (3), 1807-1823, 2022 | 15 | 2022 |
| Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 M Barbier, M Bahlo, A Pennisi, M Jacoupy, RM Tankard, C Ewenczyk, ... Annals of neurology 92 (1), 122-137, 2022 | 13 | 2022 |
| A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry A Cortese, SJ Beecroft, S Facchini, R Curro, M Cabrera-Serrano, ... Nature Communications 15 (1), 6327, 2024 | 10 | 2024 |
| Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family SR Cameron-Christie, J Wilde, A Gray, R Tankard, M Bahlo, D Markie, ... BMC Medical Genomics 11, 1-13, 2018 | 8 | 2018 |
| Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease S Debette, MG Duperron, M Knol, Q Le Grand, T Evans, A Mishra, ... | 2 | 2021 |
| Identifying disease-causing short tandem repeat expansions in massively parallel sequencing data, with a focus on ataxias RM Tankard PhD thesis, The University of Melbourne, 2017 | 2 | 2017 |
| Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data RM Tankard, MF Bennett, P Degorski, MB Delatycki, PJ Lockhart, M Bahlo BioRxiv, 2017 | 1 | 2017 |
Melanie BahloTheme Leader, Healthy Development and Ageing, The Walter and Eliza Hall Institute of在 wehi.edu.au 的电子邮件经过验证
