Bo Yuan

11PUBLICATIONS
62CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationCarbon sequestration scienceCancer geneticsMedical molecular engineering of nucleic acids and proteins
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Publications (11)

|Oct 10, 2026
Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort.

|Mar 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Philip M Boone, Serkan Erdin, Abucar Mohamed

|Feb 27, 2025
The common HAQ STING allele prevents clinical penetrance of COPA syndrome.

Noa Simchoni, Shogo Koide, Maryel Likhite

|Dec 16, 2024
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Nathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese

|Jul 04, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.

Dongxue Mao, Chaozhong Liu, Linhua Wang

|Nov 01, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.

Hongzheng Dai, Wenmiao Zhu, Bo Yuan

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Frequent Collaborators

3 joint publications

Jill Rosenfeld

2 joint publications

Weimin Bi

2 joint publications

Zhandong Liu

2 joint publications

Pengfei Liu