| IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy V Suppiah, M Moldovan, G Ahlenstiel, T Berg, M Weltman, ML Abate, ... Nature genetics 41 (10), 1100, 2009 | 2201 | 2009 |
| Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo SH Naik, P Sathe, HY Park, D Metcalf, AI Proietto, A Dakic, S Carotta, ... Nature immunology 8 (11), 1217-1226, 2007 | 828 | 2007 |
| Iron-overload–related disease in HFE hereditary hemochromatosis KJ Allen, LC Gurrin, CC Constantine, NJ Osborne, MB Delatycki, AJ Nicoll, ... New England Journal of Medicine 358 (3), 221-230, 2008 | 690 | 2008 |
| Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 Australia and New Zealand Multiple Sclerosis Genetics Consortium Nature genetics 41 (7), 824, 2009 | 443 | 2009 |
| Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage KR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, ... The American Journal of Human Genetics 90 (6), 1102-1107, 2012 | 351 | 2012 |
| Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci NA Patsopoulos, ... Annals of neurology 70 (6), 897-912, 2011 | 302 | 2011 |
| Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ... Nature genetics 44 (11), 1188-1190, 2012 | 275 | 2012 |
| Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis SF Berkovic, LM Dibbens, A Oshlack, JD Silver, M Katerelos, DF Vears, ... The American Journal of Human Genetics 82 (3), 673-684, 2008 | 255 | 2008 |
| Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26 SA Treloar, J Wicks, DR Nyholt, GW Montgomery, M Bahlo, V Smith, ... The American Journal of Human Genetics 77 (3), 365-376, 2005 | 247 | 2005 |
| Inference from gene trees in a subdivided population M Bahlo, RC Griffiths Theoretical population biology 57 (2), 79-95, 2000 | 244 | 2000 |
| Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ... The American Journal of Human Genetics 87 (1), 52-59, 2010 | 224 | 2010 |
| The Tasmanian devil transcriptome reveals Schwann cell origins of a clonally transmissible cancer EP Murchison, C Tovar, A Hsu, HS Bender, P Kheradpour, CA Rebbeck, ... Science 327 (5961), 84-87, 2010 | 222 | 2010 |
| Identification and analysis of error types in high-throughput genotyping KR Ewen, M Bahlo, SA Treloar, DF Levinson, B Mowry, JW Barlow, ... The American Journal of Human Genetics 67 (3), 727-736, 2000 | 209 | 2000 |
| A Cav3. 2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy KL Powell, SM Cain, C Ng, S Sirdesai, LS David, M Kyi, E Garcia, ... Journal of Neuroscience 29 (2), 371-380, 2009 | 151 | 2009 |
| Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 150 | 2014 |
| Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2 SB Harrap, KS Zammit, ZYH Wong, FM Williams, M Bahlo, AM Tonkin, ... Arteriosclerosis, thrombosis, and vascular biology 22 (5), 874-878, 2002 | 150 | 2002 |
| An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer IJ Majewski, I Kluijt, A Cats, TS Scerri, D de Jong, RJC Kluin, S Hansford, ... The Journal of pathology 229 (4), 621-629, 2013 | 146 | 2013 |
| Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 T Arsov, KR Smith, J Damiano, S Franceschetti, L Canafoglia, ... The American Journal of Human Genetics 88 (5), 566-573, 2011 | 142 | 2011 |
| Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians JP Rubio, J Stankovich, J Field, N Tubridy, M Marriott, C Chapman, ... Genes & Immunity 9 (7), 624-630, 2008 | 142 | 2008 |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 130 | 2014 |
