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Treacher Collins Syndrome.

Katsanis SH, Jabs EW.

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].


Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.

Holmes G, O'Rourke C, Motch Perrine SM, Lu N, van Bakel H, Richtsmeier JT, Jabs EW.

Development. 2018 Oct 5;145(19). pii: dev166488. doi: 10.1242/dev.166488.


C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

Holmes G, Zhang L, Rivera J, Murphy R, Assouline C, Sullivan L, Oppeneer T, Jabs EW.

PLoS One. 2018 Jul 26;13(7):e0201492. doi: 10.1371/journal.pone.0201492. eCollection 2018.


Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.

Reiner J, Pisani L, Qiao W, Singh R, Yang Y, Shi L, Khan WA, Sebra R, Cohen N, Babu A, Edelmann L, Jabs EW, Scott SA.

NPJ Genom Med. 2018 Jan 22;3:3. doi: 10.1038/s41525-017-0042-3. eCollection 2018.


Choanal Atresia and Craniosynostosis: Development and Disease.

Lesciotto KM, Heuzé Y, Jabs EW, Bernstein JM, Richtsmeier JT.

Plast Reconstr Surg. 2018 Jan;141(1):156-168. doi: 10.1097/PRS.0000000000003928. Review.


Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

Motch Perrine SM, Stecko T, Neuberger T, Jabs EW, Ryan TM, Richtsmeier JT.

Front Hum Neurosci. 2017 Jul 25;11:369. doi: 10.3389/fnhum.2017.00369. eCollection 2017.


Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.

Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.


A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.


Reconstructive Surgery in Times of Conflict.

Sherif RD, Massenburg BB, Weissler EH, Jabs EW, Taub PJ.

J Craniofac Surg. 2016 Sep;27(6):1506-9. doi: 10.1097/SCS.0000000000002878.


The FaceBase Consortium: a comprehensive resource for craniofacial researchers.

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.

Development. 2016 Jul 15;143(14):2677-88. doi: 10.1242/dev.135434. Epub 2016 Jun 10.


Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW.

Mol Biol Cell. 2016 Jul 15;27(14):2172-85. doi: 10.1091/mbc.E16-01-0062. Epub 2016 May 25.


Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA.

Plast Reconstr Surg. 2016 Mar;137(3):952-61. doi: 10.1097/


Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.

Sanderson SC, Suckiel SA, Zweig M, Bottinger EP, Jabs EW, Richardson LD.

Genet Med. 2016 May;18(5):501-12. doi: 10.1038/gim.2015.118. Epub 2015 Sep 3.


Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.

Bu L, Chen Q, Wang H, Zhang T, Hetmanski JB, Schwender H, Parker M, Chou YH, Yeow V, Chong SS, Zhang B, Jabs EW, Scott AF, Beaty TH.

Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):857-62. doi: 10.1002/bdra.23413. Epub 2015 Aug 17.


Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW.

Curr Genet Med Rep. 2014 Sep 1;2(3):135-145.


Ten-year experience of more than 35,000 orofacial clefts in Africa.

Conway JC, Taub PJ, Kling R, Oberoi K, Doucette J, Jabs EW.

BMC Pediatr. 2015 Feb 14;15:8. doi: 10.1186/s12887-015-0328-5.


BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

Holmes G, van Bakel H, Zhou X, Losic B, Jabs EW.

Gene Expr Patterns. 2015 Jan;17(1):16-25. doi: 10.1016/j.gep.2014.12.001. Epub 2014 Dec 12.


Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach.

Kornreich D, Mitchell AA, Webb BD, Cristian I, Jabs EW.

Cleft Palate Craniofac J. 2016 Jan;53(1):126-31. doi: 10.1597/13-353. Epub 2014 Dec 9.


Oral clefting in china over the last decade: 205,679 patients.

Kling RR, Taub PJ, Ye X, Jabs EW.

Plast Reconstr Surg Glob Open. 2014 Nov 7;2(10):e236. doi: 10.1097/GOX.0000000000000186. eCollection 2014 Oct.


Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.

Chen Q, Wang H, Schwender H, Zhang T, Hetmanski JB, Chou YH, Ye X, Yeow V, Chong SS, Zhang B, Jabs EW, Parker MM, Scott AF, Beaty TH.

PLoS One. 2014 Oct 10;9(10):e109038. doi: 10.1371/journal.pone.0109038. eCollection 2014.


Mirror movements identified in patients with moebius syndrome.

Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC.

Tremor Other Hyperkinet Mov (N Y). 2014 Jul 22;4:256. doi: 10.7916/D83F4MR8. eCollection 2014.


Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.

Brydon CA, Conway J, Kling R, Mehta L, Jabs EW, Taub PJ.

J Craniofac Surg. 2014 Sep;25(5):1601-9. doi: 10.1097/SCS.0000000000000883.


Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.


A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.


Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.

Heuzé Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT.

Bone. 2014 Jun;63:101-9. doi: 10.1016/j.bone.2014.03.003. Epub 2014 Mar 13.


Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice.

Motch Perrine SM, Cole TM 3rd, Martínez-Abadías N, Aldridge K, Jabs EW, Richtsmeier JT.

BMC Dev Biol. 2014 Feb 28;14:8. doi: 10.1186/1471-213X-14-8.


Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW.

Brain. 2014 Apr;137(Pt 4):1068-79. doi: 10.1093/brain/awu021. Epub 2014 Feb 21.


Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.

Wu T, Schwender H, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Parker MM, Wang P, Murray T, Taub M, Li S, Redett RJ, Fallin MD, Liang KY, Wu-Chou YH, Chong SS, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Jee SH, Scott AF, Beaty TH.

PLoS One. 2014 Feb 6;9(2):e88088. doi: 10.1371/journal.pone.0088088. eCollection 2014.


Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.

Percival CJ, Huang Y, Jabs EW, Li R, Richtsmeier JT.

Dev Dyn. 2014 Apr;243(4):541-51. doi: 10.1002/dvdy.24095. Epub 2014 Feb 7.


Roberts Syndrome.

Gordillo M, Vega H, Jabs EW.

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.
2006 Apr 18 [updated 2013 Nov 14].


Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study.

Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD.

J Community Genet. 2013 Oct;4(4):469-82. doi: 10.1007/s12687-013-0154-0. Epub 2013 Jun 22.


Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.

Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR.

PLoS One. 2013 Apr 4;8(4):e60439. doi: 10.1371/journal.pone.0060439. Print 2013.


From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.

Martínez-Abadías N, Holmes G, Pankratz T, Wang Y, Zhou X, Jabs EW, Richtsmeier JT.

Dis Model Mech. 2013 May;6(3):768-79. doi: 10.1242/dmm.010397. Epub 2013 Mar 8.


Postnatal brain and skull growth in an Apert syndrome mouse model.

Hill CA, Martínez-Abadías N, Motch SM, Austin JR, Wang Y, Jabs EW, Richtsmeier JT, Aldridge K.

Am J Med Genet A. 2013 Apr;161A(4):745-57. doi: 10.1002/ajmg.a.35805. Epub 2013 Mar 12.


A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.


Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study.

Sanderson SC, Diefenbach MA, Streicher SA, Jabs EW, Smirnoff M, Horowitz CR, Zinberg R, Clesca C, Richardson LD.

Public Health Genomics. 2013;16(3):83-93. doi: 10.1159/000343793. Epub 2012 Dec 12.


Tissue-specific responses to aberrant FGF signaling in complex head phenotypes.

Martínez-Abadías N, Motch SM, Pankratz TL, Wang Y, Aldridge K, Jabs EW, Richtsmeier JT.

Dev Dyn. 2013 Jan;242(1):80-94. doi: 10.1002/dvdy.23903. Epub 2012 Dec 5.


A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

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.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.


The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice.

Percival CJ, Wang Y, Zhou X, Jabs EW, Richtsmeier JT.

J Anat. 2012 Nov;221(5):434-42. doi: 10.1111/j.1469-7580.2012.01555.x. Epub 2012 Aug 12.


HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW.

Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5.


Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.


Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Wu RL, Lawson CS, Jabs EW, Sanderson SC.

Am J Med Genet A. 2012 Jul;158A(7):1556-67. doi: 10.1002/ajmg.a.35379. Epub 2012 May 24.


p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.

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.

J Clin Invest. 2012 Jun;122(6):2153-64. doi: 10.1172/JCI62644. Epub 2012 May 15.


OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW.

J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.


Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

Krejci P, Aklian A, Kaucka M, Sevcikova E, Prochazkova J, Masek JK, Mikolka P, Pospisilova T, Spoustova T, Weis M, Paznekas WA, Wolf JH, Gutkind JS, Wilcox WR, Kozubik A, Jabs EW, Bryja V, Salazar L, Vesela I, Balek L.

PLoS One. 2012;7(4):e35826. doi: 10.1371/journal.pone.0035826. Epub 2012 Apr 27.


Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.


BMP4 was associated with NSCL/P in an Asian population.

Chen Q, Wang H, Hetmanski JB, Zhang T, Ruczinski I, Schwender H, Liang KY, Fallin MD, Redett RJ, Raymond GV, Wu Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, Jabs EW, Scott AF, Beaty TH.

PLoS One. 2012;7(4):e35347. doi: 10.1371/journal.pone.0035347. Epub 2012 Apr 13.


ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population.

Wang H, Hetmanski JB, Ruczinski I, Liang KY, Fallin MD, Redett RJ, Raymond GV, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FSh, Jabs EW, Scott AF, Beaty TH.

Chin Med J (Engl). 2012 Feb;125(3):476-80.


Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.

Shi M, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Wu T, Murray T, Redett RJ, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Yeow V, Chong SS, Shi B, Christensen K, Scott AF, Patel P, Cheah F, Beaty TH.

Am J Med Genet A. 2012 Apr;158A(4):784-94. doi: 10.1002/ajmg.a.35257. Epub 2012 Mar 14.


Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.

Wu T, Fallin MD, Shi M, Ruczinski I, Liang KY, Hetmanski JB, Wang H, Ingersoll RG, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Murray JC, Marazita ML, Munger RG, Beaty TH.

Birth Defects Res A Clin Mol Teratol. 2012 Feb;94(2):76-83. doi: 10.1002/bdra.22885. Epub 2012 Jan 12.

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