Zen Huat Lu

A frameshift mutation in PRICKLE1 causes skeletal dysplasia in Cheviot sheep

The paper identifies a 10 bp deletion in PRICKLE1 causing skeletal dysplasia in Cheviot sheep and develops a DNA test to eliminate the mutation.

Single-cell analysis of the human retina reveals stage-linked microglial states and neural-immune circuit rewiring in diabetic retinopathy

This study uses single-cell RNA sequencing to analyze human retinal samples and identifies microglial states and neural-immune interactions in diabetic retinopathy.

Interpretable Aging Signatures in Human Retinal Cell Types Revealed by Single-Cell RNA Sequencing and Sparse Logistic Regression

The paper identifies cell-type-specific aging signatures in human retinal cells using single-cell RNA sequencing and machine learning, revealing molecular changes and vulnerabilities associated with aging.

Single-cell transcriptomic atlas of human retina from Chinese donors reveals population-specific cellular diversity

The paper constructs a single-cell transcriptomic atlas of the human retina from Chinese donors, identifying 10 cell types and subtypes, and mapping their molecular programs and biological functions.

A scRNA-seq Reference Contrasting Living and Early Post-Mortem Human Retina Across Diverse Donor States

The paper generates a scRNA-seq reference atlas of living and early post-mortem human retina, revealing distinct transcriptional dynamics and a novel mlCone cluster.

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

This study identifies BRCA2 mutations in a Brunei breast cancer cohort, finding 5% carrier rate and a potential founder effect in the Chinese population.

Single-cell transcriptomic integrated with machine learning reveals retinal cell-specific biomarkers in diabetic retinopathy

The paper identifies cell-type-specific biomarkers for diabetic retinopathy using single-cell transcriptomics and machine learning, achieving high classification accuracy across disease states.

A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

This study conducts a genome-wide association study to identify genetic variants linked to neck or shoulder pain, finding five significant loci including two novel ones and sex-specific associations.

Genomic Insights of Bruneian Malays

This study analyzes the genomes of Bruneian Malays using WGS and genotyping data, identifying novel variants and genomic sequences, and revealing genetic relationships with Filipino groups.

A meta-analysis of the genome-wide association studies on two genetically correlated phenotypes (self-reported headache and self-reported migraine) identifies four new risk loci for headaches (N=397,385)

This study performs a meta-analysis of GWAS on self-reported headache and migraine, identifying four new risk loci for headaches using 397,385 samples.