Publications

Publications

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2019

  • Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW and Peter I. (2019) Nonsyndromic craniosynostosis: novel coding variants. Pediatric Research Volume 85, Issue 4, Cover Image.
  • Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW and Peter I. (2019) Nonsyndromic craniosynostosis: novel coding variants. Pediatric Research 85(4):463-468 PMID:30651579
  • Lesciotto KM and Richtsmeier JT. Craniofacial skeletal response to encephalization: How do we know what we think we know? American Journal of Physical Anthropology. 2019 Jan;168 Suppl 67:27-46 PMID:30680710
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2018

  • Flaherty K, Richtsmeier JT. It’s about time: Ossification center formation in C57BL/6 mice from E12-E16. Journal of developmental biology. 2018 December 15;6(4). PMID: 30558321
  • Holmes G, O’Rourke C, Motch Perrine SM, Lu N, van Bakel H, Richtsmeier JT, Jabs EW. Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development 2018 Oct 5;145(19) PMID:30228104
  • Martínez-Abadías N, Mateu Estivill R, Sastre Tomas J, Motch Perrine S, Yoon M, Robert-Moreno A, Swoger J, Russo L, Kawasaki K, Richtsmeier J, Sharpe J. Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis. eLife. 2018 September 20;7. PMID:30234486
  • Holmes G, Zhang L, Rivera J, Murphy R, Assouline C, Sullivan L, Oppeneer T, Jabs EW. C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. PLOS ONE. 2018 Jul 26;13(7):e0201492. PMID:30048539
  • Richtsmeier JT. A century of development. American Journal of Physical Anthropology. 2018 Apr;165(4):726-740 PMID:29574839
  • Musy M, Flaherty K, Raspopovic J, Robert-Moreno A, Richtsmeier JT, Sharpe J. A quantitative method for staging mouse embryos based on limb morphometry. Development. 2018 April 5;145(7). PMID:29540505
  • Lesciotto KM, Heuze Y, Jabs EW, Bernstein JM, Richtsmeier JT. Choanal Atresia and Craniosynostosis: Development and Disease. Plastic and reconstructive surgery. 2018;141:156-168. PMID:29280877
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2017

  • Starbuck JM, Cole TM, 3rd, Reeves RH, Richtsmeier JT. The Influence of trisomy 21 on facial form and variability. American journal of medical genetics Part A. 2017;173:2861-2872. PMID: 28941128
  • Motch Perrine SM, Stecko T, Neuberger T, Jabs EW, Ryan TM, Richtsmeier JT. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. Frontiers in Human Neuroscience. 2017;11:369. PMID: 28790902
  • Lee C, Richtsmeier JT, Kraft RH. A Computational Analysis of Bone Formation in the Cranial Vault Using a Coupled Reaction-Diffusion-Strain Model. Journal of Mechanics in Medicine and Biology. 2017;17. PMID: 29225392
  • Percival CJ, Kawasaki K, Huang Y, Weiss KM, Jabs EW, Li R, Richtsmeier JT. The Contribution of Angiogenesis to Variation in Bone Development and Evolution. In C. Percival & J. Richtsmeier (Eds.), Building Bones: Bone Formation and Development in Anthropology (Cambridge Studies in Biological and Evolutionary Anthropology, Chapter 2, pp. 26-51). Cambridge: Cambridge University Press. doi:10.1017/9781316388907.003
  • Kawasaki K, Richtsmeier JT. Association of the Chondrocranium and Dermatocranium in Early Skull Formation. In C. Percival & J. Richtsmeier (Eds.), Building Bones: Bone Formation and Development in Anthropology (Cambridge Studies in Biological and Evolutionary Anthropology, Chapter 3, pp. 52-78). Cambridge: Cambridge University Press. doi:10.1017/9781316388907.004.
  • Kawasaki K, Richtsmeier JT. Chapter Appendix, Appendix to Chapter 3. In C. Percival & J. Richtsmeier (Eds.), Building Bones: Bone Formation and Development in Anthropology (Cambridge Studies in Biological and Evolutionary Anthropology, Appendix to Chapter 3, 303-314p. Cambridge: Cambridge University Press. doi:10.1017/9781316388907.014.

 

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2016

  • Heuze Y, Kawasaki K, Schwarz T, Schoenebeck JJ, Richtsmeier JT. Developmental and Evolutionary Significance of the Zygomatic Bone. Anatomical Record (Hoboken, NJ). 2016;299:1616-1630. PMID:27870340
  • Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, Van Bakel H, Visel A, Williams TJ, Wysocka J, FaceBase Consortium, Chai Y. The FaceBase Consortium: A Comprehensive Resource for Craniofacial Researchers. Development 143(14):2677-2688, 2016. PMID:27287806
  • Baab KL, Brown P, Falk D, Richtsmeier JT, Hildebolt CF, Smith K, Jungers W. A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis. PloS one. 2016;11:e0155731. PMID:27275928
  • Flaherty K, Singh N, Richtsmeier JT. Understanding craniosynostosis as a growth disorder. Wiley Interdisciplinary Reviews: Developmental Biology. 2016;5(4):429-59. PMID:27002187
  • Ye X, Guilmatre A, Reva B, Peter I, Heuze Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plastic and reconstructive surgery. 2016;137(3):952-61. PMID:26910679
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2015

  • Holmes G, van Bakel H, Zhou X, Losic B, Jabs EW. BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development. Gene Expr Patterns 17(1):16-25, 2015. PMID:25511173

 

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2014

  • Heuze Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Current genetic medicine reports. 2014;2(3):135-45. PMID:26146596
  • Lee C, Richtsmeier JT, Kraft RH. A Multiscale Computational Model for the Growth of the Cranial Vault in Craniosynostosis. Int Mech Eng Congress Expo. 2014;2014. PMID: 25909093
  • Lee C, Richtsmeier JT, Kraft RH. A computational analysis of bone formation in the cranial vault in the mouse. Front Bioeng Biotechnol. 2015;3:24. PMID:25853124
  • Singh N, Dutka T, Devenney BM, Kawasaki K, Reeves RH, Richtsmeier JT. Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology. Dis Model Mech. 2015;8:271-9. PMID:25540129
  • Richtsmeier JT, Jones MC, Lozanoff S, Trainor PA. The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting. American journal of medical genetics Part A. 2015;167:1455-73. PMID:25820705
  • Heuze Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone. 2014;63:101-9. PMID:24632501
  • Trainor PA, Richtsmeier JT. Facing up to the challenges of advancing Craniofacial Research. American journal of medical genetics Part A. 2015;167:1451-4. PMID:25820983
  • Heuze Y, Martinez-Abadias N, Stella JM, Arnaud E, Collet C, Garcia Fructuoso G, Alamar M, Lo LJ, Boyadjiev SA, Di Rocco F, Richtsmeier JT. Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. Birth defects research Part A, Clinical and molecular teratology. 2014;100(4):250-9. PMID:24578066
  • Percival CJ, Huang Y, Jabs EW, Li R, Richtsmeier JT. Embryonic craniofacial bone volume and bone mineral density FGFR2+/P253R and nonmutant mice. Dev Dyn 243(4):541-551, 2014. PMID:24504751
  • Weiss K, Buchanan A, Richtsmeier JT. How are we made?: Even well-controlled experiments show the complexity of our traits. Evol Anthropol. 2015;24:130-6. PMID:26267434
  • Singh N, Dutka T, Reeves RH, Richtsmeier JT. Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice. Dev Dyn. 2016;245:114-22. PMID:26509735
  • Di Rocco F, Biosse Duplan M, Heuze Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L. FGFR3 mutation causes abnormal membranous ossification in achondroplasia. Human molecular genetics. 2014;23(11):2914-25. PMID:24419316
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2013

  • Jabs EW Lewanda AF. Craniosynostosis. Emery & Rimoin’s Principles and Practice of Medical Genetics, 6th Ed.(eds. Rimoin DL, Pyeritz RE, Korf BR), Elsevier, Chapter 144, pp.1-34, 2013.
  • Hill CA, Martinez-Abadias N, Motch S, Austin JR, Wang Y, Jabs EW, Richtsmeier JT, Aldridge K. Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet 161(4):745-757, 2013. PMID:23495236
  • Martínez-Abadías N, Motch SM, Pankratz TL, Wang Y, Aldridge K, Jabs EW, and Richtsmeier JT. Tissue specific responses to aberrant Fgf signaling in complex head phenotypes. Dev Dyn 242(1):80-94, 2013. PMID:23172727
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2012

  • Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature Genetics. 2012 Dec;44(12):1360-4. PMID:23160099
  • Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW. p38 inhibition ameliorates skin and skull abnormalities in FGFR2 Beare- Stevenson mice. J Clin Invest 122(6):2153-2164, 2012. PMID:22585574
  • Heuze Y, Martinez-Abadias N, Stella JM, Senders CW, Boyadjiev SA, Lo LJ, Richtsmeier JT. Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis. Journal of Experimental Zoology Part B: Molecular and Developmental Evolution. 2012;318(2):109-22. PMID:22532473
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2011

  • Martinez-Abadias N, Heuze Y, Wang Y, Jabs EW, Aldridge K, Richtsmeier JT. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. PloS one. 2011;6(10):e26425. PMID:22053191
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2010

  • Martínez-Abadías N, Percival C, Aldridge K, Hill CA, Ryan T, Sirivunnabood S, Wang Y, Jabs EW, Richtsmeier JT. Beyond the closed suture in Apert syndrome mouse models: Evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn 239(11):3058-3071, 2010. PMID:20842696
  • Heuze Y, Boyadjiev SA, Marsh JL, Kane AA, Cherkez E, Boggan JE, Richtsmeier JT. New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis. Journal of Anatomy. 2010;217(2):85-96. PMID:20572900
  • Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, Jabs EW. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC developmental biology. 2010;10:22. PMID:20175913
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