Xiaona Lu, MD, PhD
Associate Research Scientist in GeneticsCards
About
Research
Publications
Featured Publications
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest E, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang Y. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports 2024, 43: 114376. PMID: 38900637, PMCID: PMC11328446, DOI: 10.1016/j.celrep.2024.114376.Peer-Reviewed Original ResearchSHANK family genesFamily genesLong-read sequencingCDNA captureTranscript structureDeleterious variantsGenomic studiesAbundant mRNAsTranscriptional dysregulationStochastic transcriptionStudies of neuropsychiatric disordersCausative genesTranscriptional profilesTranscriptional determinantsTranscriptomePostmortem brain tissueAutism spectrum disorderShank3 transcriptsTranscriptionGenesGenomeSHANK3Neuropsychiatric disordersSpectrum disorderAutism modelNovel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
Lu X, Ng K, Pinto e Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee E, Rosenfeld J, Jiang Y. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European Journal Of Human Genetics 2024, 32: 879-883. PMID: 38702431, PMCID: PMC11219747, DOI: 10.1038/s41431-024-01576-0.Peer-Reviewed Original ResearchProtein-truncating variantsSyndromic neurodevelopmental disorderGenomic studiesChromatin-modifying enzymesAcetylation of histone H4Neurodevelopmental disordersLysine 34Histone 2BMono-ubiquitinationLysine 16Epigenetic machineryGenomic evaluationMSL2Exome sequencingHistone H4Epigenetic regulationModifying enzymesEpigenetic genesFunctional importanceGenesChromatinLysineDevelopmental disordersDysmorphic faceVariantsIntrathecal Injection of Newborn Mouse for Genome Editing and Drug Delivery
Lu, X., Jiang, Y. h. Intrathecal Injection of Newborn Mouse for Genome Editing and Drug Delivery. J. Vis. Exp. (205), e65761, doi:10.3791/65761 (2024).Peer-Reviewed Original ResearchInfluence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation
Lu X, Forte AJ, Dinis J, Junn A, Alperovich M, Alonso N, Persing JA. Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation. Plastic & Reconstructive Surgery 2022, 149: 930e-942e. PMID: 35286288, DOI: 10.1097/prs.0000000000009051.Peer-Reviewed Original ResearchConceptsApert syndromeCrouzon syndromeBicoronal synostosisNonsyndromic bicoronal synostosisNonsyndromic casesPreoperative computed tomography scansSpine positionCLINICAL QUESTION/LEVELComputed tomography scanOrbital cavity volumeLateral orbital wallTomography scanApert patientsMaxillary retrusionPremature suture fusionMaxillary hypoplasiaSyndromePatientsCrouzon patientsOrbital wallSyndromic craniosynostosisAnteroposterior lengthVolumetric analysisSynostosisMalformationsOrbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome
Lu X, Forte AJ, Allam O, Park KE, Wilson A, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome. Plastic & Reconstructive Surgery 2022, 149: 731e-742e. PMID: 35171849, DOI: 10.1097/prs.0000000000008928.Peer-Reviewed Original ResearchConceptsPfeiffer syndrome patientsMonths of ageOrbital cavity volumeSyndrome patientsPfeiffer patientsSphenoid boneGlobe volumeAnterior positioningCLINICAL QUESTION/LEVELNormal control subjectsYears of ageSoft tissue volumeControl subjectsSignificant hypoplasiaPatientsBone volumePfeiffer syndromeVisual impairmentBony orbitAnteroposterior lengthMaxillaVolumetric analysisAgeMonthsMaterialise softwareDoes Different Cranial Suture Synostosis Influence Orbit Volume and Morphology in Apert Syndrome?
Lu X, Forte A, Junn A, Dinis J, Alperovich M, Alonso N, Persing J. Does Different Cranial Suture Synostosis Influence Orbit Volume and Morphology in Apert Syndrome? Plastic & Reconstructive Surgery Global Open 2021, 9: 54-54. PMCID: PMC9556056, DOI: 10.1097/01.gox.0000799368.97672.38.Peer-Reviewed Original ResearchVirtual Coordinate System in Unicoronal Synostosis
Lu X, Forte A, Persing JA. Virtual Coordinate System in Unicoronal Synostosis. Plastic & Reconstructive Surgery Global Open 2021, 9: e3616. PMID: 34422508, PMCID: PMC8376362, DOI: 10.1097/gox.0000000000003616.Peer-Reviewed Original ResearchUnicoronal synostosisMid-sagittal planeSkull baseSynostotic sideAnterior skull baseNonsyndromic unicoronal synostosisPosterior skull baseContralateral sideCT scanProtrusive pointCoronal planeFrankfort horizontal planeSynostosisSupraorbital rimFrontal boneFrontozygomatic sutureSagittal planeFused suturesPatientsSutureRespective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development
Lu X, Forte AJ, Wilson AT, Park KE, Allam O, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Respective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development. Plastic & Reconstructive Surgery 2021, 148: 145-156. PMID: 34181610, DOI: 10.1097/prs.0000000000008101.Peer-Reviewed Original ResearchOrbitofacial morphology changes with different suture synostoses in Crouzon syndrome
Lu X, Forte AJ, Junn A, Dinis J, Alperovich M, Alonso N, Persing JA. Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome. Journal Of Cranio-Maxillofacial Surgery 2021, 50: 406-418. PMID: 35065874, DOI: 10.1016/j.jcms.2021.06.012.Peer-Reviewed Original ResearchConceptsCrouzon syndrome patientsSquamosal synostosisSyndrome patientsCT scanBicoronal synostosisCrouzon syndromeComputed tomography scanSoft tissue volumeType ISurgical interventionTomography scanNormal controlsOccipital expansionGlobe volumeCrouzon patientsSagittal synostosisPatientsAnteroposterior lengthSynostosisOrbital rimStatistical significanceTissue volumeSynostosesType IVType VAirway Growth in Preoperative Patients with Crouzon Syndrome
Lu X, Forte AJ, Park KE, Allam O, Smetona J, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Airway Growth in Preoperative Patients with Crouzon Syndrome. Facial Plastic Surgery & Aesthetic Medicine 2021, 23: 191-197. PMID: 33577380, DOI: 10.1089/fpsam.2020.0441.Peer-Reviewed Original ResearchConceptsYears of ageNasal airway volumeAirway volumeCrouzon syndromePharyngeal airwayCross-sectional areaAirway cross-sectional areaObstructive sleep apneaMonths of agePreoperative patientsSleep apneaMaximal constrictionAirway developmentAirway growthTomography scanAge subgroupsCT scanPatientsSyndromeCrouzon patientsNatural historyAgeNormal dimensionsAirwayMaterialise software
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The Anlyan Center
300 Cedar Street
New Haven, CT 06519