Craniofacial Anomalies & Regeneration Section: Publications
Publications
- Almpani K, Devine KR, Liberton DK, Mishra R, Bassim C, Van Ryzin C, Facio FM, Webb BD, Barry BJ, Engle EC, Wang Jabs E, Collins FS, Manoli I, Lee JS; Moebius Syndrome Research Consortium. Multimodality craniofacial phenotyping of congenital facial weakness disorders. Cleft Palate Craniofac J. 2026 Jun;63(6):1455-1468. doi: 10.1177/10556656251344128. Epub 2025 Jul 3.
- Duverger O, Baena V, Syed ZA, Lee JS. Impaired remodeling of tight junctions associated with loss of enamel rod decussation in Tgfbr2G357W/+ mice. Calcif Tissue Int. 2026 Apr 30;117(1):71. doi: 10.1007/s00223-026-01541-7.
- MacCarrick G, Afifi RO, Allen R, Almpani K, Black JH 3rd, Boyce AM, Braverman AC, Cameron DE, Caplan J, Cervi E, Cha MJ, Christensen J, van de Laar IM, Demo E, Dewals W, Doyle AJ, Doyle JJ, Fischbein MP, Fleischer J, Fleischman F, Frischmeyer-Guerrerio PA, Guerrerio AL, Huguenard AL, Jani PH, Jordan CP, Kim HJ, Krebsová A, Kockova R, Lee JS, Lobner K, Narula N, Niknahad A, Neptune E, Pedroza AJ, Perry M, Richer J, Rios-Sanchez J, Roman MJ, Russo M, Schweber J, Shalhub S, Sorber R, Speed T, Sponseller PD, Vincent TL, Whelan A, Zeiler SR, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: 2026 updated care management primer. Genet Med. 2026 Apr 15;28(7):102577. doi: 10.1016/j.gim.2026.102577. Epub ahead of print.
- Devine KR, Lynn S, Jani J, Cyrus K, Lamichhane B, Hanner A, Dietrich C, Chung R, Frischmeyer-Guerrerio PA, Almpani K*, Duverger O*, Lee JS. Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: Geometric morphometric analysis in mice. Sci Rep. 2026 Jan 10;16(1):2185. doi: 10.1038/s41598-026-35325-8.
- Lee E, Almpani K, Lee JS. Quantitative assessment protocol for facial soft tissue volumetric changes with stereophotogrammetry. J Vis Exp. 2025 Dec 9;(226). doi: 10.3791/69204. Full video and article.
- Yamamoto de Almeida L, Dietrich C, Hanner AS, McTighe KM, Martin D; NIDCD/NIDCR Genomics and Computational Biology Core; Fairbanks T, Link TM, Le JM, Curry N, Jani P, Gao X, Yu W, Mariani FV, Duverger O, Lee JS. Skeletal maturity and age-related changes in immune cells and circulatory factors impair large-scale bone regeneration. Aging Cell. 2025 Oct;24(10):e70177. doi: 10.1111/acel.70177. Epub 2025 Jul 21.
- Duverger O, Wang SK, Liu QN, Wang Y, Martin D; NIDCD/NIDCR Genomics and Computational Biology Core; Baena V, Syed ZA, Mendoza F, Nguyen TT, Frischmeyer-Guerrerio PA, Jani PH, Lee JS. Distinctive amelogenesis imperfecta in Loeys-Dietz syndrome type II. J Dent Res. 2025 Jul;104(8):840-850. doi: 10.1177/00220345251326094. Epub 2025 Apr 22.
- Duverger O, Lee JS. The intricacies of tooth enamel: Embryonic origin, development and human genetics. J Struct Biol. 2024 Dec;216(4):108135. doi: 10.1016/j.jsb.2024.108135. Epub 2024 Oct 9.
- Yamamoto de Almeida L, Dietrich C, Duverger O, Lee JS. Acute hyperlipidemia has transient effects on large-scale bone regeneration in male mice. Sci Rep. 2024 Oct 27;14(1):25610. doi: 10.1038/s41598-024-76992-9.
- Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I, Lee JS. Oral health-related quality of life in rare disorders of congenital facial weakness. Int J Environ Res Public Health. 2024 May 13;21(5):615. doi: 10.3390/ijerph21050615.
- Almpani K, Adjei A, Liberton DK, Verma P, Hung M, Lee JS. Three-dimensional cephalometric landmark annotation demonstration on human cone beam computed tomography scans. J Vis Exp. 2023 Sep 8;(199). doi: 10.3791/65224.
- He B, Kram V, Furusawa T, Duverger O, Chu EY, Nanduri R, Ishikawa M, Zhang P, Amendt BA, Lee JS, Bustin M. Epigenetic regulation of ameloblast differentiation by HMGN proteins. J Dent Res. 2024 Jan;103(1):51-61. doi: 10.1177/00220345231202468. Epub 2023 Nov 10.
- Almpani K, Liberton DK, Jani P, Keyvanfar C, Mishra R, Curry N, Orzechowski P, Frischmeyer-Guerrerio PA, Lee JS. 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 JS, 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, Paravastu SS, Arora D, Orzechowski P, Merling RK, Mallon B, Myneni VD, Ahmad M, Kruszka P, Muenke M, Woodcock J, Gilman JW, Robey PG, Lee JS. 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, Steed MB, Bacro TH, Slate EH, Zheng N, Lee JS, Yao H. 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;2:674136. doi:10.3389/fdmed.2021.674136. Epub 2021 Aug 17.
- Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, Orzechowski P, Frischmeyer-Guerrerio PA, Duverger O, Lee JS. 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, Cherman N, Martin D, Myneni VD, Ahmad M, Futrega K, Ali S, Merling RK, Kaufman DS, Lee JS, Robey PG. 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, Lee JS, Antani S. 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, Kruszka P, Kidwai FK, Robey PG. 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, Şenel FÇ, Mah JK, Huang J, Padwa BL, Lee JS. 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. In 2020 IEEE 33rd International Symposium on Computer-Based Medical Systems (CBMS); 2020 Jul 28-30; Rochester, MN. Piscataway (NJ): IEEE; 2020. p.71-76. doi: 10.1109/CBMS49503.2020.00021.
- Nguyen QC, Duverger O, Mishra R, Mitnik GL, Jani P, Frischmeyer-Guerrerio PA, Lee JS. 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, Lee JS. 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
Last Reviewed
July 2026
July 2026