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
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. 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. PMID: 9603551, DOI: 10.1597/1545-1569_1998_035_0194_ipissc_2.3.co_2.Peer-Reviewed Original Research
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 Research
1989
Cranial vault growth in craniosynostosis.
Delashaw J, Persing J, Broaddus W, Jane J. Cranial vault growth in craniosynostosis. Journal Of Neurosurgery 1989, 70: 159-65. PMID: 2913214, DOI: 10.3171/jns.1989.70.2.0159.Peer-Reviewed Original Research