研究
論文、研討會摘要、演講與獲補助的研究計畫，每一項都附上原始來源連結。引用次數與未列出的項目，請見 Google Scholar 與 ORCID。
論文
- An agentic approach to phenotype mapping from rare disease surveys 資深作者；*共同第一作者。我主導了這項研究背後的研發計畫。獲 ML4H 2025 最佳論文獎。
- Health equity innovation in precision medicine: data stewardship and agency to expand representation in clinicogenomics 主張以病患為中心、保護隱私的資料管理。
- Centers for Mendelian Genomics: a decade of facilitating gene discovery 以 Centers for Mendelian Genomics Consortium 成員身分列名的共同作者。
- AHDC1 missense mutations in Xia-Gibbs syndrome 十位個案中，有五位來自 Xia-Gibbs 症候群病患登錄。
- Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation 第一作者暨共同通訊作者。
- Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
- Phenotypic expansion in KIF1A-related dominant disorders: a description of novel variants and review of published cases *共同第一作者；共同通訊作者。
- A genocentric approach to discovery of Mendelian disorders 第一作者。從 18,696 人的外顯子組資料中找出 154 個候選致病基因。
- Phenotypic expansion in DDX3X: a common cause of intellectual disability in females
- Whole genome comparison of a large collection of mycobacteriophages reveals a continuum of phage genetic diversity 透過 SEA-PHAGES 大學部研究計畫，以聯盟成員身分列名的共同作者。
精選研討會摘要
- Advancing computable operational definitions with ontology mapping and synthetic data simulation for more consistent real-world evidence
- An agentic AI tool for automated data transformation from TOPMed to LinkML and Phenopackets
- An AI-co-scientist framework for reproducible discovery in rare disease registries
- Automating HPO term extraction from clinical text using an LLM pipeline with UMLS Model Context Protocol (MCP) integration
- Enabling privacy-preserving clinical decision support for pharmacogenomics from whole genome sequencing
- Low-cost, interoperable rare disease registries via an enhanced GenomeConnect survey
- Damaging variants in HNRNPUL2 result in a novel HNRNP-related neurodevelopmental disorder
- Understanding the autism phenotype among individuals with HNRNP-related neurodevelopmental disorders
- HNRNP-related neurodevelopmental disorders: expanding knowledge of known conditions and prompting novel studies into candidate genes
- Using whole genome sequencing to call star alleles expands coverage and sensitivity for clinical pharmacogenomics decision-making
- Characterization of hearing loss and skin cancer in individuals with Rothmund-Thomson syndrome
- Haploinsufficiency versus gain of function in AHDC1 and the Xia-Gibbs syndrome
- Establishing a comprehensive registry and natural history study for Pol II-associated developmental disorders
- HNRNP-related neurodevelopmental disorders: expanding knowledge of known conditions and prompting novel studies into candidate genes
- Advancing insights in Xia-Gibbs syndrome: a universal registry platform for phenotypic analysis and longitudinal patient engagement
- A private, universal registry for patient engagement in biomedical research: Xia-Gibbs syndrome as a model
- A genocentric, optimization-based approach to discovery of Mendelian disease genes
- A Hadoop data lake enables genocentric mining of genetic variation associated with Mendelian disease
演講與座談
- “Updates to the XGS Registry”
- “Precision Medicine in MedTech: Shaping the Future of Personalised Care”
- “How Can We Improve Data Infrastructure?”
- Xia-Gibbs 症候群病患登錄與 Geneial 平台
- “Industry Insights: Early-Stage Companies and Venture Capital in the Biotech Sector”
- 精準醫療中的健康公平創新
- 病患登錄說明會，與 Richard Gibbs、Jianhong Hu 共同主講
- “Start-ups: Where to Start?”
- 罕見疾病基因發現
NIH 補助研究計畫
- Increasing the Value of Genomic Medicine through Private Pharmacogenomic Reporting 一個讓病患保有資料所有權與掌控權的藥物基因體報告平台，透過加密查詢，讓標準化的結果能送達醫療現場。
- Privacy-Preserving Connectivity for Rare-Disease Patients 為罕見疾病病患、倡議者、研究人員與療法開發者打造的隱私保護病患登錄與社群平台，遵循 FAIR 資料原則，並從 Xia-Gibbs 症候群病患登錄開始。這是 NHGRI 依 NIH 早期職涯科學家小型企業轉型補助（Small Business Transition Grant for Early-Career Scientists）核發的第一筆補助。