Unidade de investigación
Servicio
University of Melbourne
Melbourne, AustraliaPublicacións en colaboración con investigadores/as de University of Melbourne (14)
2024
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Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Nature Communications, Vol. 15, Núm. 1
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Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches
Journal of Extracellular Vesicles, Vol. 13, Núm. 2
2023
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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)
Nature Genetics
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Nature Genetics, Vol. 55, Núm. 1, pp. 89-99
2022
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Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia Treated with β-Blockers
JAMA Cardiology, Vol. 7, Núm. 5, pp. 504-512
2021
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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2019
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Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nature Communications, Vol. 10, Núm. 1
2012
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Nature Genetics, Vol. 44, Núm. 6, pp. 704-708
2011
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Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics, Vol. 12, Núm. 3, pp. 169-173
2010
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How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010
Human Mutation, Vol. 31, Núm. 12, pp. 1374-1381
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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)
Human Mutation, Vol. 31, Núm. 11, pp. 1179-1184
2009
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Planning the human variome project: The Spain report
Human Mutation, Vol. 30, Núm. 4, pp. 496-510