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), 1100-1104, 2009 | 2390 | 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 | 1041 | 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 | 886 | 2008 |
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 Data analysis: Bahlo Melanie 2 Brown Matthew A 6 7 Browning Brian L 20 ... Nature genetics 41 (7), 824-828, 2009 | 545 | 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 | 515 | 2012 |
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 | 421 | 2012 |
Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci NA Patsopoulos, ... Annals of neurology 70 (6), 897-912, 2011 | 367 | 2011 |
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 | 310 | 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 | 305 | 2005 |
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 | 284 | 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 | 283 | 2010 |
Inference from gene trees in a subdivided population M Bahlo, RC Griffiths Theoretical Population Biology 57 (2), 79-95, 2000 | 256 | 2000 |
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 252 | 2019 |
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 | 248 | 2013 |
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 | 242 | 2014 |
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 | 234 | 2000 |
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 | 223 | 2019 |
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 | 223 | 2014 |
Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data S Freytag, L Tian, I Lönnstedt, M Ng, M Bahlo F1000Research 7, 2018 | 221 | 2018 |
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 | 206 | 2009 |