Fan Xia
Associate Research Scientist (Cardiovascular Medicine)About
Research
Publications
2024
CffDNA 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 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 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 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