Ivan Kingyue Chinn

This study identifies a novel homozygous CD27 variant causing EBV susceptibility and variable clinical outcomes, including lymphoproliferative disease and Hodgkin lymphoma.

The paper identifies a CDC45 variant causing immune disease with allelic bias, linking it to NK cell dysfunction and variable expressivity in a family.

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper reports a pathogenic inversion in UNC13D and analyzes chromosomal inversions across multiple datasets to identify their molecular characteristics and implications in genetic diseases.

VizCNV is a tool for analyzing CNVs and phased BAF from trio genome sequencing data, identifying de novo and inherited CNVs in immunodeficiency cases.

The paper introduces a targeted sequencing framework, TADGP, that accurately calls variants in complex medically relevant genes at lower cost than HiFi-WGS, enabling scalable analysis of dark genomic regions.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.