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 PMID: 42248868, DOI: 10.1038/s41525-026-00571-2.Peer-Reviewed Original ResearchRNA-seqGenome sequenceSplice variantsVariant classificationExome sequencingRNA sequencingRNA-seq analysisDiagnostic pipelineClinical exome sequencingAutosomal recessive conditionGenomeFunctional evidenceSequenceSplicingRecessive conditionVariantsDiagnostic yieldClinical management changesClinical outcome dataES/GSExomeVUSRNARetrospective analysisRare disease
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 ResearchPathogenic variantsExome sequencingStructural anomaliesDiagnostic yield of exome sequencingCompound heterozygous pathogenic variantsMolecular diagnosisAbsence of structural anomaliesGenetic work-upHeterozygous pathogenic variantsRelevant family historyFisher's exact testSpectrum of indicationsMeier-Gorlin syndromeFetal phenotypeFetal anomaliesDiagnostic yieldPrenatal ESExact testFamily historyFetusesMultiple anomaliesWork-upDiagnostic ESStillbirthDiagnosisExperiences 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 ResearchNext-generation sequencingMitochondrial genomeComprehensive molecular diagnosisMitochondrial disordersMitochondrial diseaseMolecular diagnosisNext-generation sequencing panel testingMolecular diagnosis of mitochondrial disordersDiagnosis of mitochondrial disordersDisease-causing genesPanel testingMtDNA genomeNuclear genomeNuclear genesMtDNA heteroplasmyDiagnosing mitochondrial disordersMitochondrial heteroplasmyHeteroplasmy levelsGenomeP/LP variantsGenetic heterogeneityMtDNAHeteroplasmyGenomic testingPhenotypic variability
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 ResearchConceptsUrine organic acid analysisUntargeted metabolomic profilingInborn errors of metabolismErrors of metabolismMetabolomic profilesMetabolomic analysisHeterogeneous group of inborn errors of metabolismGroup of inborn errors of metabolismUntargeted metabolomics analysisDegree of clinical sensitivityBiochemical screening toolScreening toolOrganic acid analysisClinical sensitivityBiochemical abnormalitiesDistal defectsInborn errorsSyndromeHeterogeneous groupPlasma samplesDetectable elevationImpaired functionClinical modalityBiochemical phenotypeUrineSurvey 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 ResearchRNA-seqSynonymous variantsRNA sequencingExonic missense variantsInterpretation of variantsRNA-seq resultsHereditary cancer testingSplicing patternsMissense variantsGermline variantsPatient blood samplesSplicingVUSFunctional consequencesHereditary cancer screeningCancer screeningCancer testingNormal controlsReclassification rateVariantsBlood samplesSequencePatientsGenesGermlineCffDNA 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 ResearchNext-generation sequencingInvasive diagnostic testsCffDNA screeningNiemann-Pick diseaseCustom data analysis pipelineAmplicon next-generation sequencingAmplicon-based next-generation sequencingDisease-causing variantsType C1Biallelic pathogenic variantsData analysis pipelinesCell-free fetal DNADetect chromosomal abnormalitiesMaternal peripheral bloodDiagnostic testsWeeks of gestationNPC1 geneHigh-risk pregnanciesPathogenic variantsAnalysis pipelineFamilial variantFetal DNAProgressive neurodegenerationChromosomal abnormalitiesPeripheral bloodAI-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 ResearchNoninvasive prenatal testingPresence of cell-free fetal DNADetection of fetal chromosomal abnormalitiesCell-free fetal DNANon-invasive prenatal screeningFetal chromosomal abnormalitiesCell-free DNAMolecular genetic technologiesSingle-gene disordersFetal DNAMaternal plasmaChromosomal abnormalitiesPrenatal screeningPrenatal testingClinical experienceGenetic technologiesDNAAbnormalities
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