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Refining nosology by modelling variation among facial phenotypes: The RASopathies

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenot…

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnost…

Harmonized Phenotypes for Anxiety, Depression, and Attention-Deficit Hyperactivity Disorder (ADHD)

In multi-cohort consortia, the problem often arises that a phenotype is measured using different questionnaires. This study aimed to harmonize scores…

Universal protocols for Strep A surveillance set to transform research for world-first vaccine

A global consortium of Group A Streptococcus (Strep A) researchers has launched a series of best practice surveillance protocols designed to unite in…

Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular hetero…

Nafamostat Mesylate for Treatment of COVID-19 in Hospitalised Patients: A Structured, Narrative Review

The search for clinically effective antivirals against the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is ongoing. Repurposing of dr…