Fan Xia, PhD
Associate Research Scientist (Cardiovascular Medicine)About
Research
Publications
2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes
Zhao X, Rigobello R, Driver M, Lau S, Chong M, Chibuk J, Dai H, Wu W, Peroutka C, Famularo L, Kim A, Hummel B, Dugan S, Douglas T, Meng L, Xia F, Eng C. Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes. Npj Genomic Medicine 2026, 11: 52. PMID: 42248868, PMCID: PMC13562735, DOI: 10.1038/s41525-026-00571-2.Peer-Reviewed Original Research
2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth
Zemet R, Parobek C, Adams A, Maktabi M, Shay L, Meng L, Liu P, Dai H, Xia F, Eng C, Van den Veyver I, Vossaert L. Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth. Prenatal Diagnosis 2025, 45: 1313-1324. PMID: 40423626, PMCID: PMC13050391, DOI: 10.1002/pd.6817.Peer-Reviewed Original ResearchExperiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
Gorman E, Dai H, Feng Y, Craigen W, Chen D, Xia F, Meng L, Liu P, Rigobello R, Neogi A, Eng C, Wang Y. Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis. Frontiers In Genetics 2025, 16: 1488956. PMID: 40110048, PMCID: PMC11920145, DOI: 10.3389/fgene.2025.1488956.Peer-Reviewed Original Research
2024
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes
DiFalco C, Gijavanekar C, Wang Y, Grace A, Machol K, Emrick L, Liu N, Mizerik E, Mackay L, Dai H, Vossaert L, Xia F, Elsea S, Scaglia F. Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Molecular Genetics And Metabolism 2024, 144: 109009. PMID: 39787888, DOI: 10.1016/j.ymgme.2024.109009.Peer-Reviewed Original ResearchSurvey and improvement strategies for gene prioritization with large language models
Neeley M, Qi G, Wang G, Tang R, Mao D, Liu C, Pasupuleti S, Yuan B, Xia F, Liu P, Liu Z, Hu X. Survey and improvement strategies for gene prioritization with large language models. Bioinformatics Advances 2024, 5: vbaf148. PMID: 40666130, PMCID: PMC12263109, DOI: 10.1093/bioadv/vbaf148.Peer-Reviewed Original ResearchRefining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing
Sha Y, Ortiz J, Bristow S, Loranger K, Meng L, Zhao X, Xia F, Parmar S, ElNaggar A, Xu W. Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing. Genetics In Medicine Open 2024, 3: 101914. PMID: 39902189, PMCID: PMC11788803, DOI: 10.1016/j.gimo.2024.101914.Peer-Reviewed Original ResearchCffDNA screening for Niemann–pick disease, type C1: a case series
Lau S, Fawaz R, Rigobello R, Bawazeer S, Alajaji N, Faqeih E, Li Y, Feng Y, Xia F, Eng C, Abedalthagafi M. CffDNA screening for Niemann–pick disease, type C1: a case series. Frontiers In Medicine 2024, 11: 1390693. PMID: 39161410, PMCID: PMC11330825, DOI: 10.3389/fmed.2024.1390693.Peer-Reviewed Original ResearchAI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders
Mao D, Liu C, Wang L, AI-Ouran R, Deisseroth C, Pasupuleti S, Kim S, Li L, Rosenfeld J, Meng L, Burrage L, Wangler M, Yamamoto S, Network U, Santana M, Perez V, Shukla P, Eng C, Lee B, Yuan B, Xia F, Bellen H, Liu P, Liu Z. AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI 2024, 1: 10.1056/aioa2300009. PMID: 38962029, PMCID: PMC11221788, DOI: 10.1056/aioa2300009.Peer-Reviewed Original Research
2023
The Latest Updates in Swept-Source Optical Coherence Tomography Angiography
Xia F, Hua R. The Latest Updates in Swept-Source Optical Coherence Tomography Angiography. Diagnostics 2023, 14: 47. PMID: 38201356, PMCID: PMC10795713, DOI: 10.3390/diagnostics14010047.Commentaries, Editorials and Letters
2022
Clinical Experience With Non-invasive Prenatal Screening for Single-Gene Disorders
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao C, Wang Y, Xia F, Eng C, Benn P. Clinical Experience With Non-invasive Prenatal Screening for Single-Gene Disorders. Obstetrical & Gynecological Survey 2022, 77: 391-393. DOI: 10.1097/ogx.0000000000001058.Peer-Reviewed Original Research
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