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Craniofacial Anomalies & Regeneration Section: Publications

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Publications

  • Almpani K, Liberton DK, Jani P, Keyvanfar C, Mishra R, Curry N, et al. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. J Med Genet. 2022 Oct;59(10):938-946. doi: 10.1136/jmedgenet-2021-107695. Epub 2021 Dec 16.
  • PorrasPerez AR, Keating R, Lee J, Linguraru MG. Predictive statistical model of early cranial development. IEEE Trans Biomed Eng. 2022 Feb;69(2):537-546. doi: 10.1109/TBME.2021.3100745. Epub 2022 Jan 20.
  • Kidwai FK, Mui BWH, Almpani K, Jani P, Keyvanfar C, Iqbal K, et al. Quantitative craniofacial analysis and generation of human induced pluripotent stem cells for muenke syndrome: a case report. J Dev Biol. 2021 Sep 22;9(4):39. doi: 10.3390/jdb9040039.
  • She X, Sun S, Damon BJ, Hill CN, Coombs MC, Wei F, Lecholop MK, et al. Sexual dimorphisms in three-dimensional masticatory muscle attachment morphometry regulates temporomandibular joint mechanics. J Biomech. 2021 Sep 20;126:110623. doi: 10.1016/j.jbiomech.2021.110623. Epub 2021 Jul 10.
  • Jani P, Duverger O, Mishra R, Frischmeyer-Guerrerio PA, Lee JS: Case report: rare presentation of dentin abnormalities in loeys-dietz syndrome type I. Front Dent Med. 2021 Aug. doi:10.3389/fdmed.2021.674136.
  • Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, et al. Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation. J Med Genet. 2020 Oct;57(10):699-707. doi: 10.1136/jmedgenet-2019-106678. Epub 2020 Mar 8.
  • Kidwai F, Mui BWH, Arora D, Iqbal K, Hockaday M, de Castro Diaz LF, et al. Lineage-specific differentiation of osteogenic progenitors from pluripotent stem cells reveals the FGF1-RUNX2 association in neural crest-derived osteoprogenitors. Stem Cells. 2020 Sep;38(9):1107-1123. doi: 10.1002/stem.3206. Epub 2020 Jun 9.
  • Kim I, Misra D, Rodriguez L, Gill M, Liberton DK, Almpani K, et al. Malocclusion classification on 3D cone-beam CT craniofacial images using multi-channel deep learning models. Annu Int Conf IEEE Eng Med Biol Soc. 2020 Jul;2020:1294-1298. doi: 10.1109/EMBC44109.2020.9176672.
  • Mui BWH, Arora D, Mallon BS, Martinez AF, Lee JS, Muenke M, et al. Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation. Stem Cell Res. 2020 Jul;46:101823. doi: 10.1016/j.scr.2020.101823. Epub 2020 May 19.
  • Liberton DK, Verma P, Almpani K, Fung PW, Mishra R, Oberoi S, et al. Craniofacial analysis may indicate co-occurrence of skeletal malocclusions and associated risks in development of cleft lip and palate. J Dev Biol. 2020 Jan 28;8(1):2. doi: 10.3390/jdb8010002.
  • Misra D, Gill M, Lee JS, Antani S. Segmentation of anterior tissues in craniofacial cone-beam CT images. IEEE(CBMS). 2020;71-76. doi: 10.1109/CBMS49503.2020.00021.
  • Nguyen QC, Duverger O, Mishra R, Mitnik GL, Jani P, Frischmeyer-Guerrerio PA, et al. Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study. Orphanet J Rare Dis. 2019 Dec 16;14(1):291. doi: 10.1186/s13023-019-1250-y.
  • Liberton DK, Verma P, Contratto A, Lee JS. Development and validation of novel three-dimensional craniofacial landmarks on cone-beam computed tomography scans. J Craniofac Surg. 2019 Oct;30(7):e611-e615. doi: 10.1097/SCS.0000000000005627.
  • Liberton DK, Mishra R, Beach M, Raznahan A, Gahl WA, Manoli I, et al. Comparison of three-dimensional surface imaging systems using landmark analysis. J Craniofac Surg. 2019 Sep;30(6):1869-1872. doi: 10.1097/SCS.0000000000005795.
  • Torosdagli N, Liberton DK, Verma P, Sincan M, Lee JS, Bagci U. Deep geodesic learning for segmentation and anatomical landmarking. IEEE Trans Med Imaging. 2019 Apr;38(4):919-931. doi: 10.1109/TMI.2018.2875814. Epub 2018 Oct 12.

Principal Investigator

Janice Lee
Janice Lee, D.D.S., M.D., M.S.
Clinical Director
Office of the Clinical Director
Craniofacial Anomalies & Regeneration Section
(301) 827-1647
janice.lee@nih.gov
Last Reviewed
March 2025
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