2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
Timberlake A, McGee S, Allington G, Kiziltug E, Wolfe E, Stiegler A, Boggon T, Sanyoura M, Morrow M, Wenger T, Fernandes E, Caluseriu O, Persing J, Jin S, Lifton R, Kahle K, Kruszka P. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American Journal Of Human Genetics 2023, 110: 846-862. PMID: 37086723, PMCID: PMC10183468, DOI: 10.1016/j.ajhg.2023.03.017.Peer-Reviewed Original ResearchMeSH KeywordsChromatinCraniosynostosesGene Expression RegulationGenetic Predisposition to DiseaseHumansMutationTretinoinConceptsDamaging de novo variantsChromatin modificationsDe novo variantsCranial neural crest cellsGenome-wide significanceNeural crest cellsNovo variantsRetinoic acid receptor alphaExome sequence dataAcid receptor alphaTranscriptional regulationProband-parent triosGene transcriptionSequence dataCrest cellsOsteoblast differentiationCS phenotypeMendelian formsRecurrent gainsGenesRisk genesGenetic etiologyRetinoic acidReceptor alphaNeurodevelopmental disordersQuantifying the Impact of Genetics on Neurocognition in Nonsyndromic Sagittal Craniosynostosis
Junn A, Dinis J, Long A, Timberlake A, Persing J, Alperovich M. Quantifying the Impact of Genetics on Neurocognition in Nonsyndromic Sagittal Craniosynostosis. Plastic & Reconstructive Surgery 2023, 152: 300e-306e. PMID: 36912936, DOI: 10.1097/prs.0000000000010400.Peer-Reviewed Original ResearchConceptsFull-scale intelligence quotientHigh-risk mutationsNonsyndromic craniosynostosisNeurocognitive outcomesDouble-blinded cohort studySignificant differencesCLINICAL QUESTION/LEVELVisuomotor integrationTime of surgeryType of surgeryHigh-risk genotypesPoor neurocognitive outcomesNonsyndromic sagittal craniosynostosisHigh-risk genesPresence of mutationsCohort studySurgery typePatient factorsNeurodevelopmental delayAnalysis of covarianceNeurocognitive testingNeurocognitive effectsPatientsSociodemographic factorsSagittal craniosynostosisLong-term neurocognitive outcomes in 204 single-suture craniosynostosis patients
Junn A, Long A, Hauc S, Almeida M, Alper D, Rivera J, Mayes L, Persing J, Alperovich M. Long-term neurocognitive outcomes in 204 single-suture craniosynostosis patients. Child's Nervous System 2023, 39: 1921-1928. PMID: 36877207, DOI: 10.1007/s00381-023-05908-1.Peer-Reviewed Original ResearchConceptsFull Scale IQVisuomotor integrationVisual perceptionVerbal IQNeurocognitive testingVisual perception scoresHigher scoresLong-term neurocognitive outcomesCognitive profileWhite matter connectionsNeurocognitive deficitsIQPerception scoresMean IQNeurocognitive outcomesFrontal lobeLower scoresMotor controlMotor coordinationPerceptionNon-syndromic craniosynostosisUnicoronal synostosisScoresChildren 6Neurocognitive Outcomes in Deformational Plagiocephaly: Is There an Association between Morphologic Severity and Results?
Park K, Chandler L, Ahmad M, Singh A, Allam O, Mets E, Bridgett D, Persing J, Alperovich M. Neurocognitive Outcomes in Deformational Plagiocephaly: Is There an Association between Morphologic Severity and Results? Plastic & Reconstructive Surgery 2023, 152: 488e-498e. PMID: 36847664, DOI: 10.1097/prs.0000000000010330.Peer-Reviewed Original ResearchMeSH KeywordsChildCraniosynostosesHead Protective DevicesHumansInfantOrthotic DevicesPlagiocephalyPlagiocephaly, NonsynostoticTreatment OutcomeConceptsNeurocognitive outcomesHelmet therapyDeformational plagiocephalyNeurocognitive functionLong-term neurocognitive functionCLINICAL QUESTION/LEVELLong-term neurocognitive outcomesWorse neurocognitive outcomesVisual-motor functionMotor coordination scoresHead shape abnormalitiesSeverity of plagiocephalyNeurodevelopmental effectsSchool-aged childrenDP cohortMotor coordinationSignificant laterality
2022
Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls: An Arterial Spin Labeling Study
Long A, Persing J, Alperovich M. Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls: An Arterial Spin Labeling Study. Plastic & Reconstructive Surgery 2022, 151: 526e-527e. PMID: 36730155, DOI: 10.1097/prs.0000000000009946.Peer-Reviewed Original ResearchUtilizing Computer-Assisted Design and Virtual Surgical Planning for Correction of Unilateral Lambdoid Synostosis
Long A, Gudbranson E, Almeida M, Chong L, Mozaffari M, Alper D, Rivera J, Persing J, Alperovich M. Utilizing Computer-Assisted Design and Virtual Surgical Planning for Correction of Unilateral Lambdoid Synostosis. Journal Of Craniofacial Surgery 2022, 34: 1036-1038. PMID: 36730112, DOI: 10.1097/scs.0000000000009141.Peer-Reviewed Original ResearchMeSH KeywordsComputer-Aided DesignCranial SuturesCraniosynostosesHumansInfantMaleNeurosurgical ProceduresSkullTomography, X-Ray ComputedConceptsUnilateral lambdoid synostosisLambdoid synostosisSurgical planningCranial vault reconstructionCranial vault remodelingVirtual surgical planningSingle-suture craniosynostosisOperative timePatient presentingSurgical approachTomography scanRare formVault remodelingSynostosisPresentingSurgical modelingLongitudinal Outpatient and School-Based Service Use among Children with Nonsyndromic Craniosynostosis
Peck CJ, Junn A, Park KE, Khetpal S, Cabrejo R, Singh A, Mayes L, Alperovich M, Persing J. Longitudinal Outpatient and School-Based Service Use among Children with Nonsyndromic Craniosynostosis. Plastic & Reconstructive Surgery 2022, 150: 1309-1317. PMID: 36126215, DOI: 10.1097/prs.0000000000009678.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildCraniosynostosesHumansMaleOutpatientsParentsSchool Health ServicesSchoolsConceptsLongitudinal needsNonsyndromic craniosynostosisParents of childrenService useSchool-based servicesAfrican American race/ethnicityTime of surgerySupportive servicesPercent of parentsPredictive variablesSignificant predictive variablesType of interventionRace/ethnicityNeurodevelopmental sequelaeMale sexMajority of parentsSchool-aged childrenUse of servicesPhysical therapyPresence of siblingsSignificant burdenOutpatientsHigh parental incomeMultifactorial natureSagittal synostosisDe novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E, Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos M, Rosa R, Rogatto S, Tonne E, Stiegler A, Boggon T, Alperovich M, Steinbacher D, Staffenberg D, Flores R, Persing J, Kahle K, Lifton R. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis. Human Genetics 2022, 142: 21-32. PMID: 35997807, DOI: 10.1007/s00439-022-02477-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationCraniosynostosesMiceMutationNFI Transcription FactorsSignal TransductionTranscription FactorsConceptsDe novo mutationsDamaging de novo mutationsSingle-cell RNA sequencing analysisTranscriptional co-repressorTarget sequence recognitionRNA sequencing analysisTranscription factor NfixNovo mutationsEnrichment of mutationsBMP receptorsCo-repressorParent-offspring triosTranscription factorsGenetic gainImplicating perturbationsOsteoblast precursorsPremature suture fusionSequencing analysisMolecular etiologySequence recognitionMissense mutationsMutationsExome sequencingGenetic etiologyOsteoprogenitor cells
2021
Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?
Lu X, Forte A, Alperovich M, Alonso N, Persing J. Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome? International Journal Of Oral And Maxillofacial Surgery 2021, 51: 338-346. PMID: 34400025, DOI: 10.1016/j.ijom.2021.07.019.Peer-Reviewed Original ResearchConceptsApert syndrome patientsSyndrome patientsBone volumeApert syndromeBicoronal synostosisType IType IIISuture synostosisComputed tomography scanType IIMaxillary bone volumeIndividualized surgical planningOrbital cavity volumeBilateral coronal synostosisTomography scanAnatomic basisBone malformationsSurgical planningSynostosisCoronal synostosisOrbital rimStatistical significanceOrbit volumePatientsSyndromeDistinguishing craniomorphometric characteristics and severity in metopic synostosis patients
Chandler L, Park K, Allam O, Mozaffari M, Khetpal S, Smetona J, Pourtaheri N, Lu X, Persing J, Alperovich M. Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients. International Journal Of Oral And Maxillofacial Surgery 2021, 50: 1040-1046. PMID: 33483210, DOI: 10.1016/j.ijom.2020.11.022.Peer-Reviewed Original Research
2020
Racial 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 Research
2019
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher D, Larysz D, Staffenberg D, Flores R, Rodriguez E, Boggon T, Persing J, Lifton R, Lifton RP, Gunel M, Mane S, Bilguvar K, Gerstein M, Loring E, Nelson-Williams C, Lopez F, Knight J. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15116-15121. PMID: 31292255, PMCID: PMC6660739, DOI: 10.1073/pnas.1902041116.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlpha CateninChildChild, PreschoolCraniosynostosesExomeExome SequencingFemaleGene ExpressionGlypicansHistone AcetyltransferasesHumansMaleMutationNuclear ProteinsPedigreeRisk AssessmentSignal TransductionSkullSOXC Transcription FactorsTranscription Factor AP-2Zinc Finger Protein Gli2ConceptsRare damaging mutationsSyndromic craniosynostosisCongenital anomaliesDamaging mutationsSyndromic casesExome sequencingAdditional congenital anomaliesFrequent congenital anomaliesDamaging de novo mutationsNeural crest cell migrationDamaging de novoCrest cell migrationCS patientsMutation burdenChromatin modifiersSubsequent childrenTranscription factorsDe novo mutationsCS casesCS geneHedgehog pathwayDisease locusPremature fusionFunction mutationsCraniosynostosis
2017
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.Peer-Reviewed Original ResearchConceptsBone morphogenetic proteinRas/ERKDe novo mutationsNovo mutationsRas/ERK pathwayDamaging de novo mutationsHigh locus heterogeneityRare syndromic diseaseCommon risk variantsInhibitor of WntSyndromic craniosynostosesNew genesParent-offspring triosSyndromic diseaseMorphogenetic proteinsNegative regulatorERK pathwayMore cranial suturesGenesMidline craniosynostosisRisk variantsWntLocus heterogeneityMutationsExome sequencing
2014
The Impact of Age at Surgery on Long-Term Neuropsychological Outcomes in Sagittal Craniosynostosis
Patel A, Yang JF, Hashim PW, Travieso R, Terner J, Mayes LC, Kanev P, Duncan C, Jane J, Jane J, Pollack I, Losee JE, Bridgett DJ, Persing JA. The Impact of Age at Surgery on Long-Term Neuropsychological Outcomes in Sagittal Craniosynostosis. Plastic & Reconstructive Surgery 2014, 134: 608e-617e. PMID: 25357055, DOI: 10.1097/prs.0000000000000511.Peer-Reviewed Original ResearchConceptsLong-term neuropsychological outcomesWhole-vault cranioplastyNeuropsychological outcomesLong-term cognitive functioningHigher full-scale IQReading-related learning disabilitiesFull Scale IQWord readingCognitive functioningNeuropsychological measuresVerbal IQImproved long-term neurological outcomeNeuropsychological functionLearning DisabilitiesSagittal suture craniosynostosisIQNeurodevelopmental testsImpact of ageStrip craniectomyLong-term neurological outcomeNumerical operationsCLINICAL QUESTION/LEVELSuperior abilityTime of surgeryTechnique of surgery
2012
Improved Correction of Supraorbital Rim Deformity in Craniosynostosis by the “Tilt” Procedure
Patel A, Chang CC, Terner JS, Tuggle CT, Persing JA. Improved Correction of Supraorbital Rim Deformity in Craniosynostosis by the “Tilt” Procedure. Journal Of Craniofacial Surgery 2012, 23: 370-373. PMID: 22421828, DOI: 10.1097/scs.0b013e318240fac8.Peer-Reviewed Original Research
2011
Craniofacial deformity.
Persing J, Jane JA, Jane JA. Craniofacial deformity. Neurosurgical FOCUS 2011, 31: introduction. PMID: 21806347, DOI: 10.3171/2011.6.focus11171.Peer-Reviewed Original ResearchCombined metopic and sagittal craniosynostosis: is it worse than sagittal synostosis alone?
Terner JS, Travieso R, Lee SS, Forte AJ, Patel A, Persing JA. Combined metopic and sagittal craniosynostosis: is it worse than sagittal synostosis alone? Neurosurgical FOCUS 2011, 31: e2. PMID: 21806341, DOI: 10.3171/2011.6.focus11100.Peer-Reviewed Original ResearchMeSH KeywordsBrainCerebral VentriclesCerebral VentriculographyCraniosynostosesFemaleHumansInfantMaleOrgan SizeRetrospective StudiesConceptsMonths of ageSmaller intracranial volumeBrain dysfunctionIntracranial volumeSagittal synostosisPatient groupVentricular volumeAge groupsSagittal craniosynostosisCSF spaceBrain volume reductionBrain tissue volumesSex-matched controlsSame age groupVolume reductionRetrospective chartFemale patientsForms of craniosynostosisSagittal synostosesPatientsYoung infantsBrain tissueCT reviewIntracranial compartmentDysfunction
2010
Intracranial Compartment Volume Changes in Sagittal Craniosynostosis Patients: Influence of Comprehensive Cranioplasty
Lee SS, Duncan CC, Knoll BI, Persing JA. Intracranial Compartment Volume Changes in Sagittal Craniosynostosis Patients: Influence of Comprehensive Cranioplasty. Plastic & Reconstructive Surgery 2010, 126: 187-196. PMID: 20595867, DOI: 10.1097/prs.0b013e3181dab5be.Peer-Reviewed Original ResearchConceptsIntracranial compartment volumesSagittal synostosis patientsBrain tissue volumesGender-matched controlsBrain volumeCompartment volumeAge groupsSagittal craniosynostosis patientsTissue volumeMonths of ageConsecutive childrenCorrective surgeryTomographic scanRetrospective analysisPatientsTherapeutic objectivesCraniosynostosis patientsSagittal synostosisSagittal craniosynostosisPatient dataVolume enlargementAgeCranioplastyMonthsEquivalent increase
1998
Intracranial Pressure in Single-Suture Craniosynostosis
Cohen S, Persing J. Intracranial Pressure in Single-Suture Craniosynostosis. The Cleft Palate-Craniofacial Journal 1998, 35: 194-196. PMID: 9603551, DOI: 10.1597/1545-1569_1998_035_0194_ipissc_2.3.co_2.Peer-Reviewed Original ResearchIntracranial Pressure in Single-Suture Craniosynostosis
Cohen S, Persing J. Intracranial Pressure in Single-Suture Craniosynostosis. The Cleft Palate-Craniofacial Journal 1998, 35: 194-196. DOI: 10.1597/1545-1569(1998)035<0194:ipissc>2.3.co;2.Peer-Reviewed Original Research