Chapters:<\/h1>\n
Webb, B.D., Manoli, I., Engle, E.C., and\u00a0Jabs, E.W.<\/strong>\u00a0A framework for the evaluation of patients with congenital facial weakness.\u00a0Orphanet J Rare Dis<\/strong>\u00a016(1):158, 2021. PMID: 33827624<\/p>\n Katsanis, S.H. and\u00a0Jabs, E.W.<\/strong>:\u00a0 Treacher Collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2004 Jul 20 [updated 2020 Aug 20]. PMID: 20301704<\/p>\n Vega, H., Gordillo, M., and\u00a0Jabs, E.W.<\/strong>:\u00a0ESCO2 spectrum disorder.<\/a>. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2020 Mar 26. PMID: 20301332<\/p>\n Samuels, B.D., Aho, R., Brinkley, J.F., Bugacov, A., Feingold, E., Fisher, S., Gonzalez-Reiche A.S., Hacia, J.G., Hallgrimsson, B., Hansen, K., Harris, M.P., Ho, T.-V., Holmes, G., Hooper, J.E.,\u00a0Jabs, E.W.<\/strong>, Jones, K.L., Kesselman, C., Klein, O.D., Leslie, E.J., Li, H., Liao, E.C., Long, H., Lu, N., Maas, R.L., Marazita, M.L., Mohammed, J., Prescott, S., Schuler, R., Selleri, L., Spritz, R.A., Swigut, T., Van Bakel, H., Visel, A., Welsh, I., Williams, C., Williams, T.J., Wysocka, J., Yuan, Y., and Chai, Y.: \u00a0FaceBase 3: Analytical tools and FAIR resources for craniofacial and dental research. \u00a0Development 147(18):dev191213, 2020. PMID: 3295850.<\/p>\n Wu, M., Kriti, D., van Bakel, H.,\u00a0Jabs, E.W.<\/strong>, and Holmes, G.\u00a0 Laser capture microdissection of mouse embryonic cartilage and bone for gene expression analysis.\u00a0 J Vis Exp 18;(154). doi: 10.3791\/60503, 2019. PMID: 31904019<\/p>\n Webb, B.D., Manoli, I., and\u00a0Jabs, E.W.<\/strong>: STAC3 disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2019 Jun 20. PMID: 31219695<\/p>\n Katsanis, S.H. and\u00a0Jabs, E.W.<\/strong>: Treacher Collins Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae<\/sup>\u00a0[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2004 Jul 20 [updated 2018 Sep 27]. PMID: 20301704<\/p>\n Lesciotto, K.M., Heuz\u00e9, Y.,\u00a0Jabs, E.W.<\/strong>, Bernstein, J.M., and Richtsmeier, J.T.: Choanal Atresia and Craniosynostosis: Development and Disease. Plast and Reconstr Surg .141(1): 156-168, 2018. PMID: 29280877<\/p>\n Percival, C.J., Kawasaki, K., Huang, Y., Weiss, K.,\u00a0Jabs, E.W.<\/strong>, Li, R., and Richtsmeier, J.T.:\u00a0 The contribution of angiogenesis to variation in bone development and evolution, Building Bones: Bone Development and Formation in Anthropology (eds. Percival, C.J., Richtsmeier, J.T.), Cambridge Studies in Biological and Evolutionary Anthropology. Cambridge University Press, Cambridge, UK, pp. 26\u201351, 2017.<\/p>\n Brinkley, J.F., Fisher, S., Harris, M.P., Holmes, G., Hooper, J.E.,\u00a0Jabs, E.W.<\/strong>, Jones, K.L., Kesselman, C., Klein, O.D., Maas, R.L., Marazita, M.L., Selleri, L., Spritz, R.A., Van Bakel, H., Visel, A., Williams, T.J., Wysocka, J., FaceBase Consortium, and Chai, Y.:\u00a0 FaceBase: An Online Resource for Craniofacial Research \u2013\u00a0The Node<\/a>.<\/p>\n Brinkley, J.F., Fisher, S., Harris, M.P., Holmes, G., Hooper, J.E.,\u00a0Jabs, E.W.<\/strong>, Jones, K.L., Kesselman, C., Klein, O.D., Maas, R.L., Marazita, M.L., Selleri, L., Spritz, R.A., Van Bakel, H., Visel, A., Willimas, T.J., Wysocka, J., FaceBase Consortium, and Chai, Y. The FaceBase Consortium: A Comprehensive Resource for Craniofaical Researchers.\u00a0 Development 2016 Jun 10. PMID: 27287806<\/p>\n Heuz\u00e9, Y., Holmes, G., Peter, I., Richtsmeier, J.T., and\u00a0Jabs, E.W.<\/b>: Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep 2:135-145, 2014.<\/p>\n Gordillo, M., Vega, H., and\u00a0Jabs, E.W.<\/b>:\u00a0Roberts Syndrome<\/a>. 2006 Apr 18 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews\u2122<\/b>[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.<\/p>\n Lewanda, A.F. and\u00a0Jabs, E.W.<\/b>: Craniosynostosis, In Emery & Rimoin\u2019s Principles and Practice of Medical Genetics, 6th Edition (eds. Rimoin, D.L., Pyeritz, R.E., Korf, B.R.), Elsevier,Chapter 144, pp. 1-13, 2013.<\/p>\n Manace, K.P., Edelmann, L., and\u00a0Jabs, E.W.<\/b>: Chromosomal Disorders in Adults, In ACP Clinical Genetics, McGraw-Hill Medical, Illinois, pp. 816-821, 2013.<\/p>\n Webb, B.D., Hoover-Fong, J.E., and\u00a0Jabs, E.W.<\/b>: Achondroplasia, In ACP Clinical Genetics, McGraw-Hill Medical, Illinois, pp. 763-765, 2013.<\/p>\n Zein, M.W., Lewanda, A.F., Traboulsi, E.I., and\u00a0Jabs, E.W.<\/b>: Ocular manifestations of syndromes with craniofacial abnormalities of Genetic Diseases of the Eye (ed. Traboulsi, E.I.), Oxford University Press,pp.174-189, 2012.<\/p>\n Katsanis, S.H. and\u00a0Jabs, E.W.<\/b>: Treacher Collins Syndrome (October 2011) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2010. Available at http:\/\/www.genetests.org PMID: 20301704<\/p>\n Jabs, E.W.<\/b>\u00a02011 Clinical Delineation of KID Syndrome, an Ectodermal Dysplasia. NFED Research Report, NFED 30th Anniversary. 2011.<\/p>\n Melville, H., Wang, Y., Taub, P., and\u00a0Jabs, E.W.<\/b>: Genetic Basis of Potential Therapeutic Strategies for Craniosynostosis. Am J Med Genet A 152A(12):3007-3015, 2010. PMID: 21082653<\/p>\n Gordillo, M., Vega, H., and\u00a0Jabs, E.W.<\/b>: Roberts Syndrome In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [internet]. Seattle (WA): University of Washington, Seattle; 1993-2006 Apr 18 [updated 2009 Apr 14]. PMID: 20301332<\/p>\n Marcus, C.L., Smith, R.J., Mankarious, L.A., Arens, R., Mitchell, G.S., Elluru, R.G., Forte, V., Goudy, S.,\u00a0Jabs, E.W.<\/b>, Kane, A.A., Katz, E., Paydarfar, D., Pereira, K., Reeves, R.H., Richtsmeier, J.T., Ruiz, R.L., Thach, B.T., Tunkel, D.E., Whitsett, J.A., Wootton, D., and Blaisdell, C.J.: Developmental aspects of the upper airway: Report from from an NHLBI Workshop March 5-6, 2009. Proc Am Thoracic Soc 6(6):513-520, 2009. PMCID: PMC3136952<\/p>\n Van Maldergem, L., Siitonen, H.A.,\u00a0Jabs, E.W.<\/b>, and Gordillo, M.: RECQL4 and Rothmund-Thomson, RAPADILINO, and Baller-Gerold, In Molecular Basis of Inborn Errors of Development, 2nd Edition (eds. Epstein, C.J., Erickson, R.P., and Wynshaw-Boris, A.), Oxford University Press, New York, pp. 1237-1245, 2008.<\/p>\n Jabs, E.W.<\/b>: TWIST and the Saethre-Chotzen Syndrome, In Molecular Basis of Inborn Errors of Development, 2nd Edition (eds. Epstein, C.J., Erickson, R.P., and Wynshaw-Boris, A.), Oxford University Press, New York, pp. 474-481, 2008.<\/p>\n Gordillo, M., Vega H., and\u00a0Jabs, E.W.<\/b>: ESCO2 and Roberts Syndrome, In Molecular Basis of Inborn Errors of Development, 2nd Edition (eds. Epstein, C.J., Erickson, R.P., and Wynshaw-Boris, A.), Oxford University Press, New York, pp. 1011-1019, 2008.<\/p>\n Lewanda, A.F. and\u00a0Jabs, E.W.<\/b>: Craniosynostosis, In Emery & Rimoin\u2019s Principles and Practice of Medical Genetics, 5th Edition (eds. Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R.), Churchill Livingstone, Philadelphia, pp. 3359-3379, 2007.<\/p>\n Lewanda, A.F., Boyadjiev, S.A., and Jabs E.W.: Dysmorphology: Genetic syndromes and associations, In Oski\u2019s Pediatrics: Principles and Practice, Fourth Edition (eds. McMillan, J.A., DeAngelis, C.D., Feigin, R.D., and Warshaw, J.P.), Lippincott, Williams, & Wilkins Publishers, Philadelphia, pp. 2629-2670, 2006.<\/p>\n Jabs, E.W.<\/b>: TWIST and the Saethre-Chotzen Syndrome, In Molecular Basis of Inborn Errors of Development (eds. Epstein, C.J., Erickson, R.P., and Wynshaw-Boris, A.), Oxford University Press, New York, pp. 401-409, 2004.<\/p>\n Chong, S.E. Cheah, F.S.H., and\u00a0Jabs, E.W.<\/b>: Genes implicated in lip and palate development, In Cleft Lip and Palate: From Origin to Treatment (ed. Wyszynski, D.F.), Oxford University Press, pp. 25-39, 2002.<\/p>\n Cai, J., Ash, D., and\u00a0Jabs, E.W.<\/b>: SAGE analysis from 1microgram of total RNA, In Unit 19.4 \u201cSerial Analysis of Gene Expression From 1 Microgram Total RNA\u201d for Supplement 16 of Current Protocols in Cell Biology (eds. Bonifacino, J.S., Dasso, M., Harford, J.B., Lippincott-Schwartz, J., and Yamada, K.M.), John D. Wiley & Sons, New York, pp. 19.4.1-19.4.10, 2002. PMID: 18228401<\/p>\n Jabs EW. Genetic Etiologies of Craniosynostosis, In Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting, (eds. Mooney MP and Siegel MI), John W. Wiley and Sons, pp. 125-146, 2002.<\/p>\n Lewanda, A.F., and\u00a0Jabs, E.W.<\/b>\u00a0Craniosynostosis. In Principles and Practice of Medical Genetics, 4th Edition (eds. Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R.) Churchill Livingstone, London, pp. 3673-3688.<\/p>\n Jabs, E.W.<\/b>: Genetics of mandibulofacial dysostosis, In Craniofacial Surgery: Science and Surgical Technique (eds. Lin, K.Y., Ogle, R.C., and Jane, J.A.), W.B. Saunders Company, pp. 55-63, 2001.<\/p>\n DeLeon, V.B.,\u00a0Jabs, E.W.<\/b>, and Richtsmeier, J.: Craniofacial growth: Genetic basis and morphogenetic process in craniosynostosis, In Plastic Surgery: Indications, Operations, and Outcomes (eds. Achauer, B.M., Eriksson, E., Guyuron, B., Coleman, J.J. III, Russell, R.C., and Vander Kolk, C.A.), Mosby-Year Book, pp. 619-636, 2000.<\/p>\n McIntosh, I., Bellus, G.A., and\u00a0Jabs, E.W.<\/b>: The pleiotropic effects of fibroblast growth factor receptors in mammalian development. Cell Struc Func 25(2):85-96, 2000. PMID: 10885578<\/p>\n Lewanda A.F. and Jabs E.W.: Dysmorphology: Genetic syndromes and associations, In Oski\u2019s Pediatrics: Principles and Practice, Third Edition (eds. McMillan, J.A., DeAngelis, C.D., Feigin, R.D., and Warshaw, J.P.), Lippincott, Williams, & Wilkins Publishers, pp. 2225-2259, 1999.<\/p>\n Lewanda, A.F., Traboulsi, E.I., and\u00a0Jabs, E.W.<\/b>: Syndromes with craniofacial anomalies, In Section V. Ocular manifestations of inherited systemic diseases of Genetic Diseases of the Eye (ed. Traboulsi, E.I.), Oxford University Press, pp. 777-796, 1998.<\/p>\n Muenke, M., Francomano, C. A., Cohen, M.M., Jr., and\u00a0Jabs, E.W.<\/b>: Fibroblast growth factor receptor-related skeletal disorders: Craniosynostosis and dwarfism syndromes, In Section on Genetic Basis of Congenital Malformations (ed.\u00a0Jabs, E.W.<\/b>) of Principles of Molecular Medicine (ed. Jameson, L.), Humana Press, pp. 1029-1038, 1998.<\/p>\n Sharma, M., Wise, C., Lovett, M., and\u00a0Jabs, E.W.<\/b>: Molecular aspects of mandibulofacial dysostosis, In Studies in Stomatology and Craniofacial Biology on the Threshold of the 21st Century (ed. Cohen, M.M., Jr.), IOS Press, pp. 341-352, 1997.<\/p>\n Taylor, E.W., Xu, J.,\u00a0Jabs, E.W.<\/b>, and Meyers, D.A.: Linkage analysis of genetic disorders, In Methods in Molecular Biology, Vol. 68: Gene Isolation and Mapping Protocols (ed. Boultwood, J.), Totowa, NJ, Humana Press, pp. 11-25, 1997.<\/p>\n Wise, C.A.,\u00a0Jabs, E.W.<\/b>, and Lovett, M.: Isolating and mapping coding regions from complex genomes: Direct cDNA selection, In Methods in Molecular Genetics (ed. Adolph, K.W.), San Diego, CA, Academic Press, pp.189-206, 1996.<\/p>\n Toriello, H.V., Cooper, L.F., and\u00a0Jabs, E.W.<\/b>: Aural atresia-dysmorphic facies- skeletal defects, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 212, 1990.<\/p>\n Finkelstein, J. and\u00a0Jabs, E.W.<\/b>: Lipomas, familial symmetric, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 1073, 1990.<\/p>\n Jabs, D.A. and\u00a0Jabs, E.W.<\/b>: Granulomatosis-polysynovitis, familial systemic, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 811, 1990.<\/p>\n Arn, P.A. and\u00a0Jabs, E.W.<\/b>: Chromosome 13, monosomy 13q3, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 367-368, 1990.<\/p>\n Martin, L.S. and\u00a0Jabs, E.W.<\/b>: Chromosome 5, trisomy 5q3, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 341, 1990.<\/p>\n Martin, L.S. and\u00a0Jabs, E.W.<\/b>: Chromosome 5, trisomy 5p, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 340-341, 1990.<\/p>\n Cooper, L.F. and\u00a0Jabs, E.W.<\/b>, Chromosome 4, trisomy 4p, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 337, 1990.<\/p>\n Arn, P.H., Ketabgian, A.A., Smith, C., Schwartz, D.C., and\u00a0Jabs, E.W.<\/b>: The macromolecular organization of human centromeric regions, In Mechanisms of Chromosome Distribution and Aneuploidy, (ed. Resnick, M. and Vig, B.), New York, Alan R. Liss, Inc., pp. 1-8, 1989.<\/p>\n Jabs, E.W.<\/b>, Tuck-Muller, C.M., Cusano, R., and Rattner, J.B.: Centromere separation and aneuploidy in human mitotic mutants: Roberts Syndrome, In Mechanisms of Chromosome Distribution and Aneuploidy (ed, Resnick, M. and Vig, B.), New York, Alan R. Liss, Inc., pp. 111-118, 1989.<\/p>\n Migeon, B.R., Wolf, S.F., and\u00a0Jabs, E.W.<\/b>: Use of X chromosome probes to search for the molecular basis of X chromosome inactivation, In Recombinant DNA and Medical Genetics (eds. Messer, A. and Porter, I.H.), San Diego, Academic Press, pp. 49-55, 1983.<\/p>\n \u00a0<\/span><\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" Publications: For a complete list of our publications, please visit our pubmed page. Chapters: Webb, B.D., Manoli, I., Engle, E.C., and\u00a0Jabs, E.W.\u00a0A framework for the evaluation of patients with congenital facial weakness.\u00a0Orphanet J Rare Dis\u00a016(1):158, 2021. PMID: 33827624 Katsanis, S.H. and\u00a0Jabs, E.W.:\u00a0 Treacher Collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean […]<\/p>\n","protected":false},"author":165,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\u00a0<\/h1>\n
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Articles<\/a><\/h1>\r\n
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