Epidemiology of the idiopathic inflammatory myopathies

T Khoo, JB Lilleker, BYH Thong, V Leclair… - Nature Reviews …, 2023 - nature.com
The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of systemic
autoimmune diseases that affect the skeletal muscles and can also involve the skin, joints …

Adiposity impacts cognitive function in Asian populations: an epidemiological and Mendelian Randomization study

T Mina, YW Yew, HK Ng, N Sadhu… - The Lancet Regional …, 2023 - thelancet.com
Background Obesity and related metabolic disturbances including diabetes, hypertension
and hyperlipidemia predict future cognitive decline. Asia has a high prevalence of both …

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

NKW Yeo, CK Lim, KN Yaung, NKH Khoo… - Frontiers in …, 2024 - frontiersin.org
Early-onset systemic lupus erythematosus presents with a more severe disease and is
associated with a greater genetic burden, especially in patients from Black, Asian or …

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants

A Elfatih, C Saad… - European Journal of …, 2024 - nature.com
Arabic populations are underrepresented in large genome projects; therefore, the frequency
of clinically actionable variants among Arabs is largely unknown. Here, we investigated …

[HTML][HTML] Blood-based epigenome-wide analyses of chronic low-grade inflammation across diverse population cohorts

RF Hillary, HK Ng, DL McCartney, HR Elliott… - Cell Genomics, 2024 - cell.com
Chronic inflammation is a hallmark of age-related disease states. The effectiveness of
inflammatory proteins including C-reactive protein (CRP) in assessing long-term …

Adiposity and metabolic health in Asian populations: an epidemiological study using dual-energy x-ray absorptiometry in Singapore

T Mina, W Xie, DY Low, X Wang, BCC Lam… - The Lancet Diabetes & …, 2024 - thelancet.com
Background Type 2 diabetes, cardiovascular disease, and related cardiometabolic
disturbances are increasing rapidly in the Asia-Pacific region. We investigated the …

A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes

JHJ Tan, Z Li, MG Porta, R Rajaby, WK Lim… - Nature …, 2024 - nature.com
Structural variants (SVs) are significant contributors to inter-individual genetic variation
associated with traits and diseases. Current SV studies using whole-genome sequencing …

Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

D Moynihan, S Monaco, TW Ting, K Narasimhalu… - Scientific Reports, 2024 - nature.com
Abstract Rare genetic diseases affect 5–8% of the population but are often undiagnosed or
misdiagnosed. Electronic health records (EHR) contain large amounts of data, which …

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases

WJ Choi, SH Kim, SR Lee, SH Oh, SW Kim, HY Shin… - Scientific Reports, 2024 - nature.com
Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic
disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions …

The BIM deletion polymorphism potentiates the survival of leukemia stem and progenitor cells and impairs response to targeted therapies

M Yu, GSS Nah, V Krishnan, FNB Sulaimi, KP Ng… - Leukemia, 2024 - nature.com
One sixth of human cancers harbor pathogenic germline variants, but few studies have
established their functional contribution to cancer outcomes. Here, we developed a …