| Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant J Li, SL Woods, S Healey, J Beesley, X Chen, JS Lee, H Sivakumaran, ... The American Journal of Human Genetics 98 (5), 830-842, 2016 | 247 | 2016 |
| Genomic investigations of unexplained acute hepatitis in children S Morfopoulou, S Buddle, OE Torres Montaguth, L Atkinson, ... Nature 617 (7961), 564-573, 2023 | 107 | 2023 |
| Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study F Martinón-Torres, A Salas, I Rivero-Calle, M Cebey-López, J Pardo-Seco, ... The Lancet Child & Adolescent Health 2 (6), 404-414, 2018 | 93 | 2018 |
| Mycobacterium tuberculosis Exploits a Molecular Off Switch of the Immune System for Intracellular Survival U von Both, M Berk, PM Agapow, JD Wright, A Git, MS Hamilton, ... Scientific reports 8 (1), 661, 2018 | 47 | 2018 |
| cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data E Bellos, MR Johnson, LJM Coin Genome biology 13 (12), 1, 2012 | 41 | 2012 |
| Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies F Martinón-Torres, E Png, CC Khor, S Davila, VJ Wright, KS Sim, A Vega, ... Scientific reports 6 (1), 35842, 2016 | 38 | 2016 |
| Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study A Borghesi, J Trück, S Asgari, V Sancho-Shimizu, PKA Agyeman, E Bellos, ... Clinical infectious diseases 71 (10), e614-e623, 2020 | 24 | 2020 |
| cnvCapSeq: detecting copy number variation in long-range targeted resequencing data E Bellos, V Kumar, C Lin, J Maggi, ZY Phua, CY Cheng, CMG Cheung, ... Nucleic acids research 42 (20), e158-e158, 2014 | 17 | 2014 |
| Relationship between molecular pathogen detection and clinical disease in febrile children across Europe: a multicentre, prospective observational study P Shah, M Voice, L Calvo-Bado, I Rivero-Calle, S Morris, R Nijman, ... The Lancet Regional Health–Europe 32, 2023 | 16 | 2023 |
| cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data E Bellos, LJM Coin Bioinformatics 30 (17), i639-i645, 2014 | 15 | 2014 |
| A population model for genotyping indels from next-generation sequence data H Shao, E Bellos, H Yin, X Liu, J Zou, Y Li, J Wang, LJM Coin Nucleic acids research 41 (3), e46-e46, 2013 | 15 | 2013 |
| A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease B Mashbat, E Bellos, S Hodeib, F Bidmos, RS Thwaites, Y Lu, VJ Wright, ... Clinical Infectious Diseases 70 (10), 2045-2053, 2020 | 8 | 2020 |
| Evaluation of Autoantibody Binding to Cardiac Tissue in Multisystem Inflammatory Syndrome in Children and COVID-19 Vaccination–Induced Myocarditis H Patel, A Sintou, RA Chowdhury, S Rothery, AO Iacob, S Prasad, ... JAMA Network Open 6 (5), e2314291-e2314291, 2023 | 6 | 2023 |
| Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations V Kumar, RB Pouw, MI Autio, MG Sagmeister, ZY Phua, L Borghini, ... The American Journal of Human Genetics 109 (9), 1680-1691, 2022 | 6 | 2022 |
| Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4 S Cooray, F Price-Kuehne, Y Hong, E Omoyinmi, A Burleigh, KC Gilmour, ... Frontiers in Immunology 14, 1231749, 2023 | 5 | 2023 |
| Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens E Willems, J Gloerich, A Suppers, M van der Flier, LP van den Heuvel, ... Iscience 26 (8), 2023 | 2 | 2023 |
| Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C) E Bellos, D Santillo, P Vantourout, HR Jackson, A Duret, H Hearn, ... Journal of Experimental Medicine 221 (12), e920240699, 2024 | | 2024 |
| A rare mutation in SPLUNC1 underlies meningococcal disease affecting bacterial adherence and invasion B Mashbat, E Bellos, S Hodeib, F Bidmos, RS Thwaites, Y Lu, VJ Wright, ... Oxford University Press (OUP), 2019 | | 2019 |
| The genetic basis of invasive meningococcal disease revealed thorough whole exome sequencing E Bellos, J Herberg, V Wright, D Klobassa, M Mashbat, R Rahman, ... HUMAN GENOMICS 12, 2018 | | 2018 |
| Bioinformatics: living on the edge E Bellos, LJM Coin, M Kaforou Genome biology 13 (10), 1, 2012 | | 2012 |
Lachlan CoinPeter Doherty Institute for Infection and Immunity and University of Melbourne Centre for CancerAdresă de e-mail confirmată pe unimelb.edu.au