Publicaciones en colaboración con investigadores/as de University of Adelaide (15)

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

2020

  1. Acute severe paediatric asthma: Study protocol for the development of a core outcome set, a Pediatric Emergency Reserarch Networks (PERN) study

    Trials, Vol. 21, Núm. 1

2019

  1. Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 11, pp. 1592-1600

  2. Method-dependent epidemiological cutoff values for detection of triazole resistance in Candida and Aspergillus species for the Sensititre Yeastone colorimetric broth and etest agar diffusion methods

    Antimicrobial Agents and Chemotherapy, Vol. 63, Núm. 1

  3. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 181, Núm. 4, pp. 502-508

2017

  1. Global, regional, and national age-sex specifc mortality for 264 causes of death, 1980-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1151-1210

  2. Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1084-1150

  3. Healthcare access and quality index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015: A novel analysis from the global burden of disease study 2015

    The Lancet, Vol. 390, Núm. 10091, pp. 231-266

2016

  1. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

    Arthritis and Rheumatology, Vol. 68, Núm. 11, pp. 2795-2805

2015

  1. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 385, Núm. 9963, pp. 117-171

  2. Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 10010, pp. 2287-2323

  3. Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: Quantifying the epidemiological transition

    The Lancet, Vol. 386, Núm. 10009, pp. 2145-2191

  4. Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 9995, pp. 743-800

  5. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

    Human Mutation, Vol. 36, Núm. 11, pp. 1052-1063

2009

  1. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    Nature Genetics, Vol. 41, Núm. 5, pp. 535-543