Xiao Fan

Principal investigator
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I am an Assistant Professor in Biomedical Engineering at the University of Florida.

My research program seeks to improve understanding of genetic, biological and medical questions using computational approaches. The research projects include study of rare genetic diseases, interpretation of genetic variants, and characteristics of medical phenotypes. My laboratory aims to discover novel genes underlying diseases using case-control association studies, accurately identify pathogenic variants using machine learning methods, and predict trajectory of medical phenotypes based on cellular, molecular and genetic data.

Papers

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants

Predicting functional effect of missense variants using graph attention neural networks

Clinical and genetic characterization of CACNA1A‐related disease

The genetic architecture of pediatric cardiomyopathy

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

Genetic basis of hypercholesterolemia in adults

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Functional interrogation of DNA damage response variants with base editing screens

Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder

Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort