Kenneth K.H. Ng

The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

This paper introduces SMuRF, a framework for deep mutational scanning in disease-related genes, generating functional scores for all coding variants and aiding in variant interpretation.

The paper introduces SCEPTRE, a method combining expansion microscopy with histone modification analysis to study chromatin states in single cells at high resolution.

The paper identifies an epigenetic timer mechanism that controls temporal scaling in developmental gene networks, enabling flexible size control through delayed activation of key regulators.

The paper shows that stochastic cis-acting events at the Bcl11b locus control T-cell lineage commitment dynamics through a delay in gene activation.