2022
De 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 ResearchConceptsDe 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
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