2024
AXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, Cunningham M, Kahle K, Lifton R, Persing J. AXIN1 mutations in nonsyndromic craniosynostosis. Journal Of Neurosurgery Pediatrics 2024, 34: 246-251. PMID: 38905707, PMCID: PMC11200303, DOI: 10.3171/2024.5.peds24115.Peer-Reviewed Original ResearchSequence dataAXIN1 mutationsCase-parent triosGenome-wide significanceCS casesNonsyndromic CSGenome sequencing projectsWnt signalingExome sequencing dataRNA sequencing dataPhenotypes associated with mutationsSequencing projectsGenetic testingInhibitor of Wnt signalingLive birthsNonsyndromic casesGenetic etiologyGenetic causeCS patientsAXIN1Nonsyndromic craniosynostosisMutationsHealthy controlsBirth defectsExomeD125. A Diffusion Tensor Imaging Comparison of White Matter Development in Nonsyndromic Craniosynostosis to Neurotypical Infants
Moscarelli J, Almeida M, Lacadie C, Hu K, Ihnat J, Parikh N, Persing J, Alperovich M. D125. A Diffusion Tensor Imaging Comparison of White Matter Development in Nonsyndromic Craniosynostosis to Neurotypical Infants. Plastic & Reconstructive Surgery Global Open 2024, 12: 127-127. PMCID: PMC11340512, DOI: 10.1097/01.gox.0001018968.87118.ff.Peer-Reviewed Original ResearchWhite matter developmentNonsyndromic craniosynostosis54. A Diffusion Tensor Imaging Comparison Of White Matter Development In Nonsyndromic Craniosynostosis To Neurotypical Infants
Moscarelli J, Almeida M, Lacadie C, Hu K, Ihnat J, Parikh N, Persing J, Alperovich M. 54. A Diffusion Tensor Imaging Comparison Of White Matter Development In Nonsyndromic Craniosynostosis To Neurotypical Infants. Plastic & Reconstructive Surgery Global Open 2024, 12: 38-38. PMCID: PMC11041127, DOI: 10.1097/01.gox.0001015308.49191.ae.Peer-Reviewed Original ResearchWhite matter developmentNonsyndromic craniosynostosis
2023
Quantifying 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 craniosynostosis
2022
Longitudinal 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 ResearchConceptsLongitudinal 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 synostosis
1997
Secondary Craniofacial Management Following Initial Correction of Nonsyndromic Craniosynostosis
Shin J, Sun P, Persing J. Secondary Craniofacial Management Following Initial Correction of Nonsyndromic Craniosynostosis. Clinics In Plastic Surgery 1997, 24: 415-428. PMID: 9246510, DOI: 10.1016/s0094-1298(20)31036-1.Peer-Reviewed Original ResearchConceptsSurgical managementIntensive careInitial correctionNonsyndromic craniosynostosisCraniosynostosisCareSecondary problems