Publications:

For a complete list of our publications, please visit our pubmed page.

Chapters:

Webb, B.D., Manoli, I., Engle, E.C., and Jabs, E.W. A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis 16(1):158, 2021. PMID: 33827624

Katsanis, S.H. and Jabs, E.W.:  Treacher Collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2004 Jul 20 [updated 2020 Aug 20]. PMID: 20301704

Vega, H., Gordillo, M., and Jabs, E.W.: ESCO2 spectrum disorder.. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2020 Mar 26. PMID: 20301332

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., Jabs, E.W., 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.:  FaceBase 3: Analytical tools and FAIR resources for craniofacial and dental research.  Development 147(18):dev191213, 2020. PMID: 3295850.

Wu, M., Kriti, D., van Bakel, H., Jabs, E.W., and Holmes, G.  Laser capture microdissection of mouse embryonic cartilage and bone for gene expression analysis.  J Vis Exp 18;(154). doi: 10.3791/60503, 2019. PMID: 31904019

Webb, B.D., Manoli, I., and Jabs, E.W.: STAC3 disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2019 Jun 20. PMID: 31219695

Katsanis, S.H. and Jabs, E.W.: Treacher Collins Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2004 Jul 20 [updated 2018 Sep 27]. PMID: 20301704

Lesciotto, K.M., Heuzé, Y., Jabs, E.W., 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

Percival, C.J., Kawasaki, K., Huang, Y., Weiss, K., Jabs, E.W., Li, R., and Richtsmeier, J.T.:  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. 26–51, 2017.

Brinkley, J.F., Fisher, S., Harris, M.P., Holmes, G., Hooper, J.E., Jabs, E.W., 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.:  FaceBase: An Online Resource for Craniofacial Research – The Node.

Brinkley, J.F., Fisher, S., Harris, M.P., Holmes, G., Hooper, J.E., Jabs, E.W., 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.  Development 2016 Jun 10. PMID: 27287806

Heuzé, Y., Holmes, G., Peter, I., Richtsmeier, J.T., and Jabs, E.W.: Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep 2:135-145, 2014.

Gordillo, M., Vega, H., and Jabs, E.W.: Roberts Syndrome. 2006 Apr 18 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.

Lewanda, A.F. and Jabs, E.W.: Craniosynostosis, In Emery & Rimoin’s 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.

Manace, K.P., Edelmann, L., and Jabs, E.W.: Chromosomal Disorders in Adults, In ACP Clinical Genetics, McGraw-Hill Medical, Illinois, pp. 816-821, 2013.

Webb, B.D., Hoover-Fong, J.E., and Jabs, E.W.: Achondroplasia, In ACP Clinical Genetics, McGraw-Hill Medical, Illinois, pp. 763-765, 2013.

Zein, M.W., Lewanda, A.F., Traboulsi, E.I., and Jabs, E.W.: Ocular manifestations of syndromes with craniofacial abnormalities of Genetic Diseases of the Eye (ed. Traboulsi, E.I.), Oxford University Press,pp.174-189, 2012.

Katsanis, S.H. and Jabs, E.W.: 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

Jabs, E.W. 2011 Clinical Delineation of KID Syndrome, an Ectodermal Dysplasia. NFED Research Report, NFED 30th Anniversary. 2011.

Melville, H., Wang, Y., Taub, P., and Jabs, E.W.: Genetic Basis of Potential Therapeutic Strategies for Craniosynostosis. Am J Med Genet A 152A(12):3007-3015, 2010. PMID: 21082653

Gordillo, M., Vega, H., and Jabs, E.W.: 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

Marcus, C.L., Smith, R.J., Mankarious, L.A., Arens, R., Mitchell, G.S., Elluru, R.G., Forte, V., Goudy, S., Jabs, E.W., 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

Van Maldergem, L., Siitonen, H.A., Jabs, E.W., 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.

Jabs, E.W.: 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.

Gordillo, M., Vega H., and Jabs, E.W.: 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.

Lewanda, A.F. and Jabs, E.W.: Craniosynostosis, In Emery & Rimoin’s 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.

Lewanda, A.F., Boyadjiev, S.A., and Jabs E.W.: Dysmorphology: Genetic syndromes and associations, In Oski’s 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.

Jabs, E.W.: 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.

Chong, S.E. Cheah, F.S.H., and Jabs, E.W.: 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.

Cai, J., Ash, D., and Jabs, E.W.: SAGE analysis from 1microgram of total RNA, In Unit 19.4 “Serial Analysis of Gene Expression From 1 Microgram Total RNA” 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

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.

Lewanda, A.F., and Jabs, E.W. Craniosynostosis. 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.

Jabs, E.W.: 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.

DeLeon, V.B., Jabs, E.W., 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.

McIntosh, I., Bellus, G.A., and Jabs, E.W.: The pleiotropic effects of fibroblast growth factor receptors in mammalian development. Cell Struc Func 25(2):85-96, 2000. PMID: 10885578

Lewanda A.F. and Jabs E.W.: Dysmorphology: Genetic syndromes and associations, In Oski’s 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.

Lewanda, A.F., Traboulsi, E.I., and Jabs, E.W.: 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.

Muenke, M., Francomano, C. A., Cohen, M.M., Jr., and Jabs, E.W.: Fibroblast growth factor receptor-related skeletal disorders: Craniosynostosis and dwarfism syndromes, In Section on Genetic Basis of Congenital Malformations (ed. Jabs, E.W.) of Principles of Molecular Medicine (ed. Jameson, L.), Humana Press, pp. 1029-1038, 1998.

Sharma, M., Wise, C., Lovett, M., and Jabs, E.W.: 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.

Taylor, E.W., Xu, J., Jabs, E.W., 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.

Wise, C.A., Jabs, E.W., 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.

Toriello, H.V., Cooper, L.F., and Jabs, E.W.: Aural atresia-dysmorphic facies- skeletal defects, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 212, 1990.

Finkelstein, J. and Jabs, E.W.: Lipomas, familial symmetric, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 1073, 1990.

Jabs, D.A. and Jabs, E.W.: Granulomatosis-polysynovitis, familial systemic, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 811, 1990.

Arn, P.A. and Jabs, E.W.: Chromosome 13, monosomy 13q3, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 367-368, 1990.

Martin, L.S. and Jabs, E.W.: Chromosome 5, trisomy 5q3, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 341, 1990.

Martin, L.S. and Jabs, E.W.: Chromosome 5, trisomy 5p, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 340-341, 1990.

Cooper, L.F. and Jabs, E.W., Chromosome 4, trisomy 4p, In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 337, 1990.

Arn, P.H., Ketabgian, A.A., Smith, C., Schwartz, D.C., and Jabs, E.W.: 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.

Jabs, E.W., 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.

Migeon, B.R., Wolf, S.F., and Jabs, E.W.: 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.