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 softwareGrowth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis
Lu X, Forte AJ, Wilson A, Park KE, Allam O, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis. International Journal Of Oral And Maxillofacial Surgery 2020, 50: 924-932. PMID: 33384236, DOI: 10.1016/j.ijom.2020.11.023.Peer-Reviewed Original ResearchConceptsAirway volumeCrouzon syndrome patientsYears of ageNasal airwaySyndrome patientsCrouzon patientsPharyngeal airwayCrouzon syndromeSuture synostosisNasopharyngeal airway volumePharyngeal airway volumeNasal airway volumeType IComputed tomography scanType IIIBilateral coronal synostosisAirway compromiseRespiratory difficultyControl subjectsTomography scanAirwayPatientsPharyngeal volumeSagittal synostosisCoronal synostosisNasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome
Lu X, Forte A, Allam O, Park K, Junn A, Alperovich M, Steinbacher D, Tonello C, Alonso N, Persing J. Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome. British Journal Of Oral And Maxillofacial Surgery 2020, 59: 592-598. PMID: 33863588, DOI: 10.1016/j.bjoms.2020.10.008.Peer-Reviewed Original ResearchConceptsAirway volumeNasal airwayPfeiffer syndromeNasopharyngeal airwayPharyngeal airwayComputed tomogramsCross-sectional areaPharyngeal airway volumeNasal airway volumePreoperative computed tomogramsMaxillomandibular advancementRespiratory crisisSurgical treatmentUpper airwayChoanal stenosisAirwayPatientsNasal pathwayMaxillary expansionRegional abnormalitiesSyndromeAnteroposterior dimensionAnatomical basisAnteroposterior lengthPosterior widthMorphological Basis for Airway Surgical Intervention in Apert Syndrome
Lu X, Forte AJ, Park KE, Allam O, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Morphological Basis for Airway Surgical Intervention in Apert Syndrome. Annals Of Plastic Surgery 2020, 87: 59-64. PMID: 34133365, DOI: 10.1097/sap.0000000000002601.Peer-Reviewed Original ResearchConceptsApert syndrome patientsPharyngeal airway volumeComputed tomography scanSyndrome patientsApert syndromeAirway volumeSurgical interventionTomography scanNasal cavityPreoperative computed tomography scansAirway volume changesAge-related subgroupsYears of ageMonths of agePosition of maxillaGrowth of mandibleAirway compromiseNasopharyngeal airwayPharyngeal airwayNasal airwayIntergonial widthSyndromeAirwayPatientsAnteroposterior lengthRacial disparity in orbital morphology and spatial relations in unoperated Crouzon patients
Lu X, Forte A, Fan F, Zhang Z, Teng L, Yang B, Alperovich M, Steinbacher D, Alonso N, Persing J. Racial disparity in orbital morphology and spatial relations in unoperated Crouzon patients. British Journal Of Oral And Maxillofacial Surgery 2020, 59: 579-585. PMID: 33581885, DOI: 10.1016/j.bjoms.2020.10.001.Peer-Reviewed Original ResearchAirway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome
Lu X, Forte A, Park K, Allam O, Steinbacher D, Alperovich M, Passos-Bueno M, Tonello C, Alonso N, Persing J. Airway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome. FACE 2020, 1: 89-96. DOI: 10.1177/2732501620973030.Peer-Reviewed Original ResearchPharyngeal airwayAirway volumeNasal airwayApert patientsCT scanNasal cavityCross-sectional areaApert syndromeSuture synostosisNasopharyngeal airway volumePharyngeal airway volumeAirway volume changesDecreased cross-sectional areaType IIIBilateral coronal synostosisType IIAirway developmentSyndrome subtypesCranial base angulationAirwayEstablished classification systemPatientsSurgical planningSectional areaCoronal synostosisRacial Disparity of Crouzon Syndrome in Skull and Orbit Morphology, and Their Spatial Relationships
Lu X, Forte A, Fan F, Zhang Z, Teng L, Yang B, Alperovich M, Steinbacher D, Alonso N, Persing J. Racial Disparity of Crouzon Syndrome in Skull and Orbit Morphology, and Their Spatial Relationships. Plastic & Reconstructive Surgery Global Open 2020, 8: 41-42. PMCID: PMC7553573, DOI: 10.1097/01.gox.0000720496.97076.5e.Peer-Reviewed Original ResearchSphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis.
Lu X, Forte AJ, Park KE, Allam O, Mozaffari MA, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Sphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis. Journal Of Craniofacial Surgery 2020, 32: 67-72. PMID: 32868725, DOI: 10.1097/scs.0000000000006914.Peer-Reviewed Original ResearchCranial Fossa Development in Differing Subtypes of Crouzon Syndrome.
Lu X, Forte AJ, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Cranial Fossa Development in Differing Subtypes of Crouzon Syndrome. Journal Of Craniofacial Surgery 2020, 31: 673-677. PMID: 32049910, DOI: 10.1097/scs.0000000000006181.Peer-Reviewed Original ResearchClassification of Subtypes of Crouzon Syndrome Based on the Type of Vault Suture Synostosis.
Lu X, Sawh-Martinez R, Forte AJ, Wu R, Cabrejo R, Wilson A, Steinbacher DM, Alperovich M, Alonso N, Persing JA. Classification of Subtypes of Crouzon Syndrome Based on the Type of Vault Suture Synostosis. Journal Of Craniofacial Surgery 2020, 31: 678-684. PMID: 32068731, DOI: 10.1097/scs.0000000000006173.Peer-Reviewed Original ResearchConceptsClass IIICrouzon syndromeClass IClass IISuture involvementSuture synostosisSimilar craniofacial characteristicsComputed tomography scanClassification of subtypesSurgical interventionMorphology of patientsAnatomic deformityTomography scanSurgical techniqueCT scanDifferent subtypesSagittal synostosisSyndromeClass IVPremature closureCraniofacial characteristicsSevere craniofacial malformationsCranial base lengthSynostosisDifferent pathologiesRacial disparity of Crouzon syndrome in maxilla and mandible
Lu X, Forte AJ, Fan F, Zhang Z, Teng L, Yang B, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Racial disparity of Crouzon syndrome in maxilla and mandible. International Journal Of Oral And Maxillofacial Surgery 2020, 49: 1566-1575. PMID: 32362538, DOI: 10.1016/j.ijom.2020.04.005.Peer-Reviewed Original ResearchConceptsAsian patientsCaucasian patientsCrouzon syndrome patientsCrouzon syndromeSyndrome patientsRacial disparitiesAnteroposterior maxillary lengthMidface profileTomography scanPatientsMandibular volumeCaucasian controlsCraniosynostosis patientsMaxillary positioningMaxillary lengthSyndromeVolume deficiencyANB angleAsian controlsMandibular lengthBackward displacementMaterialise softwareMaxillaSame extentMaxilla length