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
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
1997
Management of the Ventricular Shunt in Posterior Deformities of the Skull in Craniosynostosis
Sun P, Shin J, Persing J. Management of the Ventricular Shunt in Posterior Deformities of the Skull in Craniosynostosis. Journal Of Craniofacial Surgery 1997, 8: 38-41. PMID: 10332297, DOI: 10.1097/00001665-199701000-00013.Peer-Reviewed Original Research
1994
Sagittal Synostosis
Ocampo R, Persing J. Sagittal Synostosis. Clinics In Plastic Surgery 1994, 21: 563-574. PMID: 7813156, DOI: 10.1016/s0094-1298(20)30724-0.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsChild, PreschoolCranial SuturesCraniosynostosesCraniotomyHumansInfantParietal Bone
1991
Surgical Treatment of Metopic Synostosis
Shaffrey M, Persing J, Delashaw J, Shaffrey C, Jane J. Surgical Treatment of Metopic Synostosis. Neurosurgery Clinics Of North America 1991, 2: 621-627. PMID: 1821308, DOI: 10.1016/s1042-3680(18)30723-x.Peer-Reviewed Original ResearchConceptsMetopic synostosisPatient ageSurgical treatmentEarly surgical treatmentRate of brainCranial vault growthSurgical techniqueAesthetic deformityBony remodelingSkull deformitySynostosisFixation methodsSkull abnormalitiesAgeDeformityCranial bonesSignificant benefitsAccurate assessmentTreatmentCraniofacial defectsTreatment of Syndromic and Nonsyndromic Bilateral Coronal Synostosis in Infancy and Childhood
Persing J, Jane J. Treatment of Syndromic and Nonsyndromic Bilateral Coronal Synostosis in Infancy and Childhood. Neurosurgery Clinics Of North America 1991, 2: 655-663. PMID: 1821311, DOI: 10.1016/s1042-3680(18)30726-5.Peer-Reviewed Original Research
1990
Total Cranial Vault Reconstruction for Parietal Encephalocele
Berman D, Persing J. Total Cranial Vault Reconstruction for Parietal Encephalocele. Plastic & Reconstructive Surgery 1990, 86: 554-557. PMID: 2385674, DOI: 10.1097/00006534-199009000-00029.Peer-Reviewed Original ResearchCraniofacial Trauma
Derdyn C, Persing J, Broaddus W, Delashaw J, Jane J, Levine P, Torner J. Craniofacial Trauma. Plastic & Reconstructive Surgery 1990, 86: 238-245. PMID: 2367573, DOI: 10.1097/00006534-199008000-00005.Peer-Reviewed Original ResearchConceptsFacial fracturesSurgical repairPoor prognosisLow Glasgow Coma ScoreMidline cerebral structuresEarly surgical repairGlasgow Coma ScoreTime of surgeryHead injury patientsSignificant poor prognosisFacial fracture repairCerebral traumaComa ScoreMultisystem traumaIntracranial hemorrhageRadiographic featuresIntracranial pressureRetrospective analysisCraniofacial traumaCerebral structuresPatientsFracture repairTraumaSignificant differencesPrognosisFloating C-shaped orbital osteotomy for orbital rim advancement in craniosynostosis: preliminary report.
Persing J, Jane J, Park T, Edgerton M, Delashaw J. Floating C-shaped orbital osteotomy for orbital rim advancement in craniosynostosis: preliminary report. Journal Of Neurosurgery 1990, 72: 22-6. PMID: 2294180, DOI: 10.3171/jns.1990.72.1.0022.Peer-Reviewed Original Research
1989
Vacuum-stiffened beanbag for cranial remodeling procedures in modified prone position. Technical note.
Park T, Broaddus W, Harris M, Persing J, Jane J. Vacuum-stiffened beanbag for cranial remodeling procedures in modified prone position. Technical note. Journal Of Neurosurgery 1989, 71: 623-5. PMID: 2795185, DOI: 10.3171/jns.1989.71.4.0623.Peer-Reviewed Original Research
1987
Late surgical treatment of unilateral coronal synostosis using methyl methacrylate.
Persing J, Cronin A, Delashaw J, Edgerton M, Henson S, Jane J. Late surgical treatment of unilateral coronal synostosis using methyl methacrylate. Journal Of Neurosurgery 1987, 66: 793-9. PMID: 3553459, DOI: 10.3171/jns.1987.66.6.0793.Peer-Reviewed Original Research
1985
The Surgical Treatment of Fibrous Dysplasia
EDGERTON M, PERSING J, JANE J. The Surgical Treatment of Fibrous Dysplasia. Annals Of Surgery 1985, 202: 459-479. PMID: 3901941, PMCID: PMC1250946, DOI: 10.1097/00000658-198510000-00007.Peer-Reviewed Original ResearchConceptsFibrous dysplasiaLarge personal seriesEarly surgical managementGroup of patientsLoss of visionDonor site morbidityCranio-orbital reconstructionPostoperative absorptionDysplastic boneSurgical treatmentClinical featuresComplete resectionSinus infectionSurgical managementEndocrine abnormalitiesClinical findingsPersonal seriesSurgical approachBony lesionsMalignant changeEarly treatmentVisual functionBone graftingDifferential diagnosisImmediate reconstruction
1984
Variants of sagittal synostosis: strategies for surgical correction.
Vollmer D, Jane J, Park T, Persing J. Variants of sagittal synostosis: strategies for surgical correction. Journal Of Neurosurgery 1984, 61: 557-62. PMID: 6747694, DOI: 10.3171/jns.1984.61.3.0557.Peer-Reviewed Original Research