Fan Xia, PhD
Associate Research Scientist (Cardiovascular Medicine)About
Research
Publications
2025
Experiences 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 phenotypeUrineCffDNA 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, 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 PMID: 38962029, PMCID: PMC11221788, DOI: 10.1056/aioa2300009.Peer-Reviewed Original ResearchP682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
Saeidian A, Vossaert L, Mizerik E, Wu W, Dai H, Owen N, Smith J, Meng L, Eng C, Xia F, Bi W, Zhao X. P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders. Genetics In Medicine Open 2024, 2: 101586. DOI: 10.1016/j.gimo.2024.101586.Peer-Reviewed Original ResearchP722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases
Yang J, Chen T, Kao E, Dong J, Lattier J, Dai H, Meng L, Xia F, Schmitt E, Peacock S, Craigen W, Rigobello R, Wong L, Eng C, Wang Y. P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases. Genetics In Medicine Open 2024, 2: 101626. DOI: 10.1016/j.gimo.2024.101626.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.Peer-Reviewed Original Research
2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Guo H, Bettella E, Marcogliese P, Zhao R, Andrews J, Nowakowski T, Gillentine M, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen M, van Bon B, Rinne T, Stevens S, Kleefstra T, Brunner H, Yntema H, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz C, Romano C, Castiglia L, Bottitta M, Dhar S, Erwin D, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert A, Abou Jamra R, Büttner B, Mefford H, Muir A, Scheffer I, Regan B, Malone S, Gecz J, Cobben J, Weiss M, Waisfisz Q, Bijlsma E, Hoffer M, Ruivenkamp C, Sartori S, Xia F, Rosenfeld J, Bernier R, Wangler M, Yamamoto S, Xia K, Stegmann A, Bellen H, Murgia A, Eichler E. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications 2019, 10: 4679. PMID: 31616000, PMCID: PMC6794285, DOI: 10.1038/s41467-019-12435-8.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnimalsAutistic DisorderBehavior, AnimalBrainChildChild, PreschoolCraniofacial AbnormalitiesDevelopmental DisabilitiesDrosophila melanogasterDrosophila ProteinsEpilepsyExome SequencingFemaleHumansIntellectual DisabilityLanguage Development DisordersMaleMembrane ProteinsMental DisordersMuscle ProteinsMutationNerve Tissue ProteinsNeurodevelopmental DisordersNeurogliaNeuronsProteinsYoung AdultConceptsDisruptive mutationsPsychiatric disordersDrosophila glial cellsGene-disrupting mutationsPostsynaptic densityGlial cellsGenetic dataPostsynaptic density proteinHuman developing brainRestriction patternsProtein productionDelayed languageIntellectual disabilityCarrier parentsNeuropsychiatric disordersPsychiatric dysfunctionBehavior problemsDegree of epilepsyPediatric patientsBehavioral outcomesMutationsFacial dysmorphismExcitatory neuronsPostsynaptic functionDeveloping brain
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