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 defectsExome
2021
QS3: Influence Of Nonsyndromic Bicoronal Synostosis And Syndromic Influences On And Periorbital Malformation
Lu X, Forte A, Alperovich M, Alonso N, Persing J. QS3: Influence Of Nonsyndromic Bicoronal Synostosis And Syndromic Influences On And Periorbital Malformation. Plastic & Reconstructive Surgery Global Open 2021, 9: 26-27. PMCID: PMC8312814, DOI: 10.1097/01.gox.0000770068.53559.0d.Peer-Reviewed Original ResearchApert syndromeCrouzon syndromeBicoronal synostosisNonsyndromic bicoronal synostosisNonsyndromic casesSpine positionPreoperative CT scanOrbital cavity volumeLateral orbital wallApert patientsMaxillary retrusionCT scanPremature suture fusionMaxillary hypoplasiaSyndromePatientsCrouzon patientsOrbital wallSyndromic craniosynostosisAnteroposterior lengthVolumetric analysisSynostosisMalformationsRetrusionSuture fusion