Xiao Fan

发表

Common germline-somatic variant interactions in advanced urothelial cancer

W. Chung, M. Rubin, O. Elemento, 2020, Nature Communications.

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

W. Chung, O. Devinsky, S. Skinner, 2021, Neurology: Genetics.

SHINE: Protein Language Model based Pathogenicity Prediction for Inframe Insertion and Deletion Variants

Yufeng Shen, Wendy K. Chung, Xiao Fan, 2022, bioRxiv.

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

W. Chung, Liyong Deng, R. Leibel, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Clinical and genetic characterization of CACNA1A‐related disease

Yufeng Shen, Wendy K. Chung, Xiao Fan, 2022, Clinical genetics.

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

V. Janssens, G. Mirzaa, R. Derua, 2022, Journal of Medical Genetics.

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

Yufeng Shen, H. Carter, Kamil J. Cygan, 2021, Genome Medicine.

Predicting functional effect of missense variants using graph attention neural networks

W. Chung, Yufeng Shen, Haicang Zhang, 2021, bioRxiv.

The genetic architecture of pediatric cardiomyopathy.

S. Colan, Yufeng Shen, B. Aronow, 2022, American journal of human genetics.

Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network

Marc S. Williams, W. Chung, Yufeng Shen, 2021, JNCI cancer spectrum.

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

Matthew P. Anderson, Yufeng Shen, J. Christodoulou, 2020, medRxiv.