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Reports and Findings

Research

Machine learning and clinical epigenetics: a review of challenges for diagnosis and classification

We now have a growing number of epigenetic alterations in disease, and this offers a chance to increase sensitivity and specificity of future diagnostics and therapies

Research

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers

Research

Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospital

This retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital

Research

The Undiagnosed Diseases Network International: Five years and more

The Undiagnosed Diseases Network International was established with the major aims of providing diagnoses to patients

Research

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

Research

SmartStartAllergy: a novel tool for monitoring food allergen introduction in infants

Infant feeding practices in Australia have changed over the past decade; a large majority of infants are now fed peanut before 12 months of age

Research

Editorial overview: Endocrine and metabolic adaptations to extreme environments: Living life to the extreme – insights into the limits of life and transitions to disease

The need to understand responses to extreme environments has prompted this edition of Current Opinion in Endocrine and Metabolic Research

Research

Mental Health Issues and Complex Experiences of Abuse Among Trans and Gender Diverse Young People: Findings from Trans Pathways

Those working in trans and gender diverse health care need to be aware of the high prevalence of violence and abuse among trans and gender diverse young people