Family: References: Publications
2004
Flück, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge C.F., Jabs, E.W., Menonça, B.B., Fujieda, K., and Miller, W.L.
Mutant P450-oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet 36(3):228-230
abstract
Glaser, R.L. and Jabs, E.W.
Dear Old Dad: paternal age and the origin of spontaneous mutations in humans
Sci Aging Knowl. Environ. (3):re1-11
abstract
Hewitt, C., McCormick, D., Linden, G., Turk, D., Stern, I., Wallace, I., Southern, L., Zhang, L., Howard, R., Bullon, P., Wong, M., Widmer, R., Gaffar, K.A., et al.
The role of cathepsin C In Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hum Mutat 23(3):222-228
abstract
Kates, W.R., Burnette, C.P., Bessette, B.A., Folley, B.S., Strunge, L., Jabs, E.W., and Pearlson, G.D.
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).
J Child Neurol 19(5):337-342
abstract
Shoo, B.A., McPherson, E., and Jabs, E.W.
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
Am J Med Genet 126A:84-88
abstract
Slifer, K.J., Amari, A., Diver, T., Hilley, L., Beck, M., Kane, A., and McDonnell, S.
Social interaction patterns of children and adolescents with and without oral clefts during a videotaped analogue social encounter.
Cleft Palate-Craniofac J 41(2):175-184
abstract
2003
Cai, J., Goodman, B.K., Patel, A.S., Mulliken, J.B., Van Maldergem, L., Hoganson, G.E., Paznekas, W.A., Ben-Neriah, Z., Sheffer, R., Cunningham, M.L., Daentl, D.L., and Jabs, E.W.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Hum Genet, 114(1):68-76
abstract
Glaser, R.L., Broman, K.W., Schulman, R.L., Eskenazi B., Wyrobek, A.J., and Jabs, E.W.
The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm.
Am J Hum Genet 73(4):939-947
abstract
Slifer, K.J., Beck, M.Q.H., Amari, A., Diver, T., Hilley, L., Kane, A., and McDonnell, S.
Self-concept and satisfaction with physical appearance in youth with and without oral clefts.
Children's Health Care 32(2):81-101
Slifer, K.J., Diver, T., Amari, A., Cohn, J.F., Hilley, L., Beck, M., McDonnell, S., and Kane, A.
Assessment of facial emotion encoding and decoding skills in children with and without oral clefts.
J Craniomaxillofac Surg 31(5):304-315
abstract
Upton, S., Stadter, C.S., Landis, P., and Wulfsberg, E.A.
Speech characteristics in the Kabuki syndrome.
Am J Med Genet A 116:338-341
abstract
2002
Miller, C., Losken, H.W., Towbin, R., Bowen, A.D., Mooney, M.P., Towbin, A., and Faix, R.S.
Ultrasound diagnosis of craniosynostosis.
Cleft Palate-Craniofac J 39:73-80
abstract
Wyszynski, D.F., Wu, T.
Use of U.S. Birth Certificate Data to Estimate the Risk of Maternal Cigarette Smoking for Oral Clefting
Cleft Palate-Craniofac J 39:188-192
abstract
2001
De Baere, E., Dixon, M.J., Small, K.W., Jabs, E.W., Leroy, B.P., Devriendt, K., Gillerot, Y., Mortier, G., Meire, F. Van Maldergem, L. Courtens, W., Hjalgrim, H., Huang, S., Liebaers, I., Van Regemorter, N., Touraine, P., Praphanphoj, V., Veroles, A., Uda
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.
Hum Mol Genet 10(15):1591-1600
abstract
Kates, W.R., Burnette, C.P., Jabs, E.W., Rutberg, J., Murphy, A.M., Grados, M., Geraghty, M., Kaufmann, W.E., and Pearlson, G.D.
Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis.
Biol Psychol 49(8): 677-684
abstract
Lowry, R.B., Jabs, E.W., Graham, G.E., Gerritsen, J., and Fleming, J.
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
Am J Med Genet 104(2):112-119
abstract
Wyszynski, D.F.
Dysmorphology in the Bible and the Talmud.
Teratology 64(4):221-225
abstract
2000
DeLeon, V.B., Jabs, E.W., and Richtsmeier, J.T.
Craniofacial growth in craniosynostosis: Genetic basis and morphogenetic process in craniosynostosis.
Plastic Surgery: Indications, Operations, and Outcomes (eds. Achauer, B.M., Eriksson, E., Guyuron, B., Coleman, J.J., Russell, R.C., Vander Kolk, C.A., and Wilkins, E.G.), Mosby-Year Book, pp. 619-636
Glaser, R.L., Jiang, W., Boyadjiev, S.A., Tran, A.K., Zachary, A.A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall ,S.A., Wilkie, A.O.M., and Jabs, E.W.
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Am J Hum Genet 66:768-777
abstract
1999
Kovach, M.J., Lin, J.P., Boyadjiev, S., Campbell, K., Mazzeo, L., Herman, K., Rimer, L.A., Frank, W., Llewellyn, B., Jabs, E.W., Gelber, D., and Kimonis, V.E.
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Am J Hum Genet 64(6):1580-1593
abstract
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
Tavormina, P., Bellus, G.A., Webster, MK., Bamshad, M.J., Fraley, A.E., McIntosh, I., Szabo, J., Jiang, W., Jabs, E.W., Wilcox, W.R., Wasmuth, J.J., Donoghue, D.J., Thompson, L.M.,and Francomanco, C.A.
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in fibroblast growth factor receptor 3 gene.
Am J Hum Genet 64(3):722-731
abstract
1998
Flanagan, N., Boyadjiev, S.A., Harper, J., Kyne, L., Earley, M., Watson, R., Jabs, E.W., and Geraghty, M.T.
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
J Med Genet 35(9):763-766
abstract
Jabs, E.W.
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates.
Clin Genet 53(2):79-86
abstract
Levitas, A.S., and Reid, C.S.
Rubinstein-Taybi syndrome and psychiatric disorders.
J Intellect Disabil Res 42 ( Pt 4): 284-92
abstract
McIntosh, I., Dreyer, S.D., Clough, M.V., Dunston, J.A., Eyaid, W., Roig, C.M., Montgomery, T., Ala-Mello, S., Kitila, I., Winterpacht, A., Zabel, B., Frydman, M., Cole, W.G., Francomano, C.A., and Lee, B.
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
Am J Hum Genet 63(6): 1651-1658
abstract
Paznekas, W.A., Cunningham, M.L., Howard, T.D., Korf, B.R., Lipson, M.H., Grix, A.W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., and Jabs, E.W.
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Am J Hum Genet 62(6):1370-1380
abstract
Vollrath, D., Jaramillo-Babb, V.L., Clough, M.V., McIntosh, I., Scott, K.M., Lichter, P.R., and Richards, J.E.
Loss-of-function mutations in the LIM- homeodomain gene, LMX1B, in nail-patella syndrome.
Hum. Mol. Genet. 7: 1091-1098
abstract
Wyszynski, D.F., Zeiger, J., Tilli, M.T., Bailey-Wilson, J.E., and Beaty, T.H.
Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate.
Am J Med Genet 79(3): 184-190
abstract
Wyszynski, D.F.
Fifty years after the Nuremberg Nazi Doctors' Trial: reviewing how the laws of the Third Reich applied to individuals with oral clefts.
Plast Reconstr Surg 101(2): 519-527
abstract
Wyszynski, D.F., Crivelli, A., Ezquerro, S., and Rodriguez, A.
Assessment of nutritional status in a population of recently hospitalized patients.
Medicina (B Aires) 58(1): 51-57
abstract
1997
Howard, T.D., Paznekas, W.A., Green, E.D., Chiang, L.C., Ma, N., Ortiz de Luna, R.I., Garcia Delgada, C., Gonzalez-Ramos, M, Kline, A.D, and Jabs, E .W.
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Nat Genet 15(1):36-41
abstract
Slifer, K.J., Tucker, C.L., Gerson, A.C., Sevier, R.C., Kane, A.C., Amari, A., and Clawson, B.P.
Antecedent management and compliance training improve adolescents' participation in early brain injury rehabilitation.
Brain Inj 11: 877-889
abstract
Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M., and Jabs, E.W.
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Proc Natl Acad Sci, USA 94:3110-3115
abstract
Witt, P.D., Myckatyn, T., Marsh, J.L., Grames, L.M., and Dowton, S.B.
Need for velopharyngeal management following palatoplasty: an outcome analysis of syndromic and nonsyndromic patients with Robin sequence.
Plast Reconstr Surg 99: 1522-1529
abstract
Wyszynski, D.F., Duffy, D.L., and Beaty, T.H.
Maternal cigarette smoking and oral clefts: a meta-analysis.
Cleft Palate Craniofac J 34(3): 206-210
abstract
1996
Hunter, A.G., Reid, C.S., Pauli, R.M., and Scott, C.I.
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.
Am J Med Genet 1: 62(1): 91-97
abstract
Kane, A.A., Lo, L.J., Vannier, M.W., and Marsh, J.L.
Mandibular dysmorphology in unicoronal synostosis and plagiocephaly without synostosis.
Cleft Palate Craniofac J 33: 418-423
abstract
Kane, A.A., Mitchell, L.E., Craven, K.P., and Marsh, J.L.
Observations on a recent increase in plagiocephaly without synostosis.
Pediatrics 97: 877-885
abstract
Leana-Cox, J., Pangkanon, S., Eanet, K.R., Curtin, M.S., and Wulfsberg, E.A.
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.
Am J Med Genet 65: 309-316
abstract
Lewanda, A.F., Meyers, G.A., and Jabs, E.W.
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects.
Proc Assoc Am Physicians 108(1):19-24
abstract
Lo, L.J., Marsh, J.L., Kane, A.A., and Vannier, M.W.
Orbital dysmorphology in unilateral coronal synostosis
Cleft Palate Craniofac J; 33(3):190-197
abstract
Lo, L.J., Marsh, J.L., Pilgram, T.K., and Vannier, M.W.
Plagiocephaly: differential diagnosis based on endocranial morphology.
Plast Reconstr Surg 97: 282-291
abstract
Lo, L.J., Marsh, J.L., Yoon, J., and Vannier, M.W.
Stability of fronto-orbital advancement in nonsyndromic bilateral coronal synostosis: a quantitative three-dimensional computed tomographic study.
Plast Reconstr Surg 98: 393-405
abstract
Przylepa, K.A., Paznekas, W., Zhang, M., Golabi, M., Bias, W., Bamshad, M.J., Carey, J.C., Hall, B.D., Stevenson, R., Orlow, S., Cohen, M.M. Jr., and Jabs, E.W.
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Nat Genet 13(4):492-494
abstract
Shermak, M.A. and Dufresne, C.R.
Nonlethal case of otocephaly and its implications for treatment.
J. Craniofac. Surg. 7: 372-375
abstract
Shermak, M.A., Perlman, E.J., Carson, B.S., and Dufresne, C.R.
Giant congenital nevocellular nevus overlying an encephalocele.
J. Craniofac. Surg. 7: 376-383
abstract
Sidoti, E.J. Jr., Marsh, J.L., Marty-Grames, L., and Noetzel, M.J.
Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances.
Plast Reconstr Surg. 97: 276-281
abstract
Wulfsberg, E.A.
Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
Am J Med Genet 64(3): 523-524
abstract
Wulfsberg, E.A., Campbell, A.B., Lurie, I.W., and Eanet, K.R.
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.
Am J Med Genet 63(4): 554-557
abstract
Wulfsberg, E.A., Leana-Cox, J., and Neri, G.
What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes.
Am J Med Genet 65(4): 317-319
abstract
Wyszynski, D.F., and Beaty, T.H.
Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts.
Teratology 53(5): 309-317
abstract
Wyszynski, D.F., Beaty, T.H., and Maestri, N.E.
Genetics of nonsyndromic oral clefts revisited.
Cleft Palate Craniofac J 33(5): 406-417
abstract
Wyszynski, D.F., Lewanda, A.F., and Beaty, T.H.
Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate.
Am J Med Genet 30; 66(4): 468-470
abstract
1995
Bellus, G.A., McIntosh, I., and Smith, E.A., et al.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Nat Genet 10(3): 357-359
abstract
Dufresne, C., and Richtsmeier, J.T.
Interaction of craniofacial dysmorphology, growth, and prediction of surgical outcome.
J Craniofac Surg 6(4):270-281
abstract
Hoffmann, D.E., and Wulfsberg, E.A.
Testing children for genetic predispositions: is it in their best interest?
J Law Med Ethics 23(4): 331-344
abstract
Meyers, G.A., Orlow, S.J., Munro, I.R., Przylepa, K.A., and Jabs, E.W.
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Nat Genet 11(4):462-464
abstract
Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C., and Jabs, E.W.
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Hum Mol Genet 4(7):1229-1233
abstract
Park, W.J., Theda, C., Maestri, N.E., Meyers, G.A., Fryburg, J.S., Dufresne, C., Cohen, M.M. Jr., and Jabs, E.W.
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
Am J Hum Genet 57(2):321-328
abstract
Slifer, K.J., Babbitt, R.L., and Cataldo, M.D.
Simulation and counterconditioning as adjuncts to pharmacotherapy for invasive pediatric procedures.
J Dev Behav Pediatr 16: 133-141
abstract
Slifer, K.J., Cataldo M.D., and Kurtz P.F.
Behavioural training during acute brain trauma rehabilitation: an empirical case study.
Brain Inj 9(6), 585-593
abstract
1994
Jabs E.W., Li X., Scott A.F., Meyers G., Chen W., Eccles M., Mao J.I., Charnas L.R., Jackson C.E., and Jaye M.
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nat Genet 8(3):275-279
abstract
Lewanda, A.F., Jabs, E.W.
Genetics of craniofacial disorders.
Curr Opin Pediatr 6: 690-697
abstract
Lo, L.J., Marsh, J.L., Vannier, M.W., and Patel, V.V.
Craniofacial computer-assisted surgical planning and simulation.
Clin Plast Surg 21: 501-516
abstract
Slifer, K.J., Cataldo, M.F., Cataldo, M.D., Llorente, A.M., and Gerson, A.C.
Behavior analysis of motion control for pediatric neuroimaging.
J Appl Behav Anal 26: 469-470
abstract
Vander Kolk, C.A. and Beaty, T.
Etiopathogenesis of craniofacial anomalies.
Clin Plast Surg 21(4):481-488
abstract
Vander Kolk, C.A., and Carson, B.S.
Lambdoid synostosis.
Clin Plast Surg 21(4): 575-584
abstract
Wulfsberg, E.A., Hoffmann, D.E., and Cohen, M.M.
Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society.
JAMA 271(3): 217-222
abstract
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Last Updated:
8/12/05
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