Xiaona Lu, MD, PhD

Featured Publications

• Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes

  Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest E, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang Y. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports 2024, 43: 114376. PMID: 38900637, PMCID: PMC11328446, DOI: 10.1016/j.celrep.2024.114376.

  Peer-Reviewed Original Research

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• Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

  Lu X, Ng K, Pinto e Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee E, Rosenfeld J, Jiang Y. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European Journal Of Human Genetics 2024, 32: 879-883. PMID: 38702431, PMCID: PMC11219747, DOI: 10.1038/s41431-024-01576-0.

  Peer-Reviewed Original Research

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• Intrathecal Injection of Newborn Mouse for Genome Editing and Drug Delivery

  Lu, X., Jiang, Y. h. Intrathecal Injection of Newborn Mouse for Genome Editing and Drug Delivery. J. Vis. Exp. (205), e65761, doi:10.3791/65761 (2024).

  Peer-Reviewed Original Research

• Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation

  Lu X, Forte AJ, Dinis J, Junn A, Alperovich M, Alonso N, Persing JA. Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation. Plastic & Reconstructive Surgery 2022, 149: 930e-942e. PMID: 35286288, DOI: 10.1097/prs.0000000000009051.

  Peer-Reviewed Original Research

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• Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome

  Lu X, Forte AJ, Allam O, Park KE, Wilson A, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome. Plastic & Reconstructive Surgery 2022, 149: 731e-742e. PMID: 35171849, DOI: 10.1097/prs.0000000000008928.

  Peer-Reviewed Original Research

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• Virtual Coordinate System in Unicoronal Synostosis

  Lu X, Forte A, Persing JA. Virtual Coordinate System in Unicoronal Synostosis. Plastic & Reconstructive Surgery Global Open 2021, 9: e3616. PMID: 34422508, PMCID: PMC8376362, DOI: 10.1097/gox.0000000000003616.

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• Respective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development

  Lu X, Forte AJ, Wilson AT, Park KE, Allam O, Alperovich M, Steinbacher DM, Alonso N, Persing JA. Respective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development. Plastic & Reconstructive Surgery 2021, 148: 145-156. PMID: 34181610, DOI: 10.1097/prs.0000000000008101.

  Peer-Reviewed Original Research

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• Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome

  Lu X, Forte AJ, Junn A, Dinis J, Alperovich M, Alonso N, Persing JA. Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome. Journal Of Cranio-Maxillofacial Surgery 2021, 50: 406-418. PMID: 35065874, DOI: 10.1016/j.jcms.2021.06.012.

  Peer-Reviewed Original Research

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• Airway Growth in Preoperative Patients with Crouzon Syndrome

  Lu X, Forte AJ, Park KE, Allam O, Smetona J, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Airway Growth in Preoperative Patients with Crouzon Syndrome. Facial Plastic Surgery & Aesthetic Medicine 2021, 23: 191-197. PMID: 33577380, DOI: 10.1089/fpsam.2020.0441.

  Peer-Reviewed Original Research

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• Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis

  Lu X, Forte AJ, Wilson A, Park KE, Allam O, Alperovich M, Steinbacher DM, Tonello C, Alonso N, Persing JA. Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis. International Journal Of Oral And Maxillofacial Surgery 2020, 50: 924-932. PMID: 33384236, DOI: 10.1016/j.ijom.2020.11.023.

  Peer-Reviewed Original Research

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