2006

Richtsmeier JT, Aldridge KA, Deleon VB, Panchal J, Kane AA, Marsh JL, Yan P, Cole III TM
Phenotypic integration of neurocranium and brain.
Journal of experimental zoology Part B.306(4):360-78. abstract

2005

Aldridge K, Kane AA, Marsh JL , Panchal J , Boyd SA, Yan P, Govier D, Ahmad W, Richtsmeier JT
Brain morphology in non-syndromic unicoronal craniosynostosis.
Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology, 285:690-698

Aldridge K, Kane AA, Marsh JL, Govier D, Richtsmeier JT
Relationship of brain and skull in pre- and postoperative sagittal synostosis.
Journal of Anatomy, 206(4):373-85 abstract

Aldridge KA, Boyadjiev Boyd SA, Capone GT, DeLeon VB, Richtsmeier JT
Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images.
American Journal of Medical Genetics Part A, 138(3):247-53 abstract

Huang, N., Pandey, A.V., Agrawal, V., Reardon, W., Lapunzina, P.D., Mowat, D., Jabs, E.W., Van Vliet, G., Sack, J., Fluck, C.E., and Miller, W.L.
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steriodogenesis.
Am J Hum Genet 76(5):729-749 abstract

Richtsmeier JT, Cole III TM, Lele S
Landmark morphometrics and the analysis of variation. In Variation: A Central Concept in Biology
(B Hallgrimsson and BK Hall, eds.),Elsevier Academic Press, Boston. 49-68

Richtsmeier JT, Lele S., Cole III TM
An invariant approach to the study of fluctuating asymmetry: developmental instability in a mouse model for Down syndrome.
Modern Morphometrics in Physical Anthropology, D Slice, Ed., Kluwer Academic/Plenum Publisher Series, Developments in Primatology: Progress and Prosepcts, (RH Tuttle, Ed.), 187-212

Wang, Y., Xiao, R., Yang, F., Karim, B.O., Iacovelli, A.J., Cai, J., Lerner, C.P., Richtsmeier, J.T., Leszl, J.M., Hill, C.A., Yu, K., Ornitz, D.M., Elisseeff, J., Huso, D.L., and Jabs, E.W.
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse.
Development 132(15):3537-3548 abstract

2004

Fellows-Mayle, W.K., Mitchell, R., Losken, H.W., Bradley, J., Siegel, M.I., and Mooney, M.P.
Intracranial pressure changes in craniosynostotic rabbits.
Plast Reconstr Surg 113(2):557-565 abstract

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

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 Synshaw-Boris, A.)
Oxford University Press, New York, pp. 401-409

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

Lorenz-Depiereux, B., Guido, V.E., Johnson, K.R., Zheng ,Q.Y., Gagnon, L.H., Bauschatz, J.D., Davisson, M.T., Washburn, L.L., Donahue, L.R., Strom, T.M., and Eicher, E.M.
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
Mamm Genome 15(3):151-161 abstract

Luo, W., Williams, J., Smallwood, P.M., Touchman, J.W., Roman, L.M., and Nathans, J.
Proximal and distal sequences control UV cone pigment gene expression in transgenic Zebrafish.
J Biol Chem 279(18):19286-19293 abstract

Marazita, M.L. and Mooney, M.P.
Current concepts in the embryology and genetics of cleft lip and cleft palate.
Clin Plast Surg 31(2):125-140 abstract

Marazita, M.L., Murray, J.C., Lidral, A.C., Arcos-Burgos, M., Cooper, M.E., Goldstein, T., Maher, B.S., Daack-Hirsch, S., Schultz, R., Mansilla, M.A., Field, L.L., Liu, Y.E., Prescott, N., Malcolm, S., Winter, R., Ray, A., et al.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Am J Hum Genet 75(2):161-173 abstract

Marra, K.G., Mooney, M.P., and Hollinger, J.O.
Scaffolding in Tissue Engineering, In, Tissue Engineering of Craniofacial Structures, (eds. Ma, P.X., Elisseeff, J.),
Marcel Dekker, Inc., in press

Mooney, M.P., and Siegel, M.I.
Animal models for bone tissue engineering of critical-sized defects (CSDs), bone pathologies, and orthopedic disease states.
Hollinger, J.O. (Ed.). Fundamentals of Bone Tissue Engineering, C.R.C. Press, 2005

Mooney, M.P., Moursi, A.M., Opperman, L.A., and Siegel, M.I.
Cytokine therapy for craniosynostosis.
Exper Opin Biol Ther 4:279-299 abstract

Olson LE, Richstmeier JT, Leszi J, Reeves RH
A chromosome 21 critical region does not cause specific Down syndrome phenotypes.
Science, 306(5696):687-90 abstract

Poisson, E., Sciote, J.J., Koepsel, R., Cooper, G.M., Opperman, L.A., and Mooney, M.P.
Transforming growth factor-beta isoform expression in the perisutural tissues of craniosynostotic rabbits.
Cleft Palate Craniofac J 41(4):392-402 abstract

Richtsmeier, J.T., Cole, T.M. III, and Lele, S.
Landmark Morphometrics and the Analysis of Variation, In Variation: A Hierarchical Examination of a Central Concept in Biology, (eds. Hallgrimsson B and Hall BK),
Academic Press Series in Evolutionary Biology, New York, in press.

Richtsmeier, J.T., Lele, S., and Cole, T.M. III.
An Invariant Approach to the Study of Fluctuating Asymmetry: Developmentalo Instability in a Mouse Model for Down Syndrome, In Modern Morphometrics in Physical Anthropology, (ed. Tuttle RH),
Kluwer Academic/Plenum Publishers Series, Developments in Primatology: Progress and Prospects, in press.

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

Aldridge, K.
Effects of aging on the normal adult brain.
Am J Phys Anthropol, Suppl 36:57

Bauschatz, J.D., Curtain, M.M., Davisson, M.T., Lane, P.W., and Donahue, L.R.
In Collaboration: The Jackson Laboratory Craniofacial Resource, Special Issue: Honoring Dr. Sandy C. Marks, Jr., 1937-2002.
Crit Rev Eukaryot Gene Expr 13(2-4):107-108

Bidic, S.M.S., Calvert, J.W., Marra, K., Kumta, P., Campbell, P., Mitchell, R., Wigginton, W., Hollinger, J.O., Weiss, L., and Mooney, M.P.
Rabbit calvarial wound healing by means of seeded caprotite scaffolds.
J Dent Res 82(2):131-135 abstract

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

Cai, J., Shoo, B.A., Sorauf, T. and Jabs, E.W.
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Clin Genet 64(1):79-82. abstract

Carver EA, Oram KF, and Gridley T.
Slug expression during organogenesis in mice.
Anatom Rec abstract

Chong, S.L., Mitchell, R., Moursi, A.M., Winnard, P., Losken, H.W., Bradley, J., Ozerdem, O.R., Azari, K., Acarturk, O., Opperman, L.A., Siegel, M.I., and Mooney, M.P.
Rescue of coronal suture fusion using transforming growth factor-beta 3 (Tgf-beta 3) in rabbits with delayed-onset craniosynostosis.
Anat Rec A Discov Mol Cell Evol Biol 274(2):962-971 abstract

DeLeon, V.
Asymmetry, developmental instability and non-directional growth constraints in the human skull.
Am J Phys Anthropol, Suppl 36:86

Donahue, L.R., Chang, B., Mohan, S., Miyakoshi, N., Wergedal, J.E., Baylink, D.J., Hawes, N.L., Rosen, C.J., Ward-Bailey, P., Zheng, Q.Y., Bronson, R.T., Johnson, K.R., and Davisson, M.T.
A missense mutation in the mouse Co12a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
J Bone Miner Res 18(9):1612-1621 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

Hill, C., Reeves, R.H., Epstein, C.J., Valeri, C.J., Lindsay, E., Baxter, L.L., Cole, T.M., and Richtsmeier, J.T.
Developmental instability and skeletal phenotypes in Down syndrome.
Am J Phys Anthropol, Suppl 36:114

Hoover-Fong, J.E., Cai, J., Cargile, C.B., Thomas, G.H., Patel, A., Griffin, C.A., Jabs, E.W., and Hamosh, A.
Facial Dysgenesis: A novel facial syndrome with chromosome 7 deletion p15-1-21.1.
Am J Med Genet 117A(1):47-56 abstract

Mao, J.J., Wang, X., Mooney, M.P., Kopher, R.A., and Nudera, J.A.
Strain induced osteogenesis of the cranial suture upon controlled delivery of low-frequency of cyclic forces.
Frontiers Biosci 8:10-17 abstract

Mitchell, R., Barbano, T.E., Losken, H.W., Siegel, M.I., and Mooney, M.P.
Early neuromotor behavior in craniosynostotic rabbits.
Cleft Palate-Craniofac J 40(5):486-492 abstract

Moursi, A.M., Winnard, P.L., Fryer, D., and Mooney, M.P.
Delivery of transforming growth factor-beta2-perturbing antibody in a collagen vehicle inhibits cranial suture fusion in calvarial organ culture.
Cleft Palate-Craniofac J 40:225-232 abstract

Oram, K.F., Carver E.A., and Gridley, T.
Slug expression during organogenesis in mice.
Anatom Record Part A, 271A:189-191 abstract

Richtsmeier, J.T., (eds. Olson, W., and Hall, B.),
Growth: In Keywords and Concepts in Evolutionary Developmental Biology
Cambridge, Harvard University Press, pp. 161-168

Richtsmeier, J.T., Aldridge, K.J., Cole, T.M., III., DeLeon, V.B., Govier, D., Marsh, J.L., Kane, A.A., Panchal, J., Vander Kolk, C, and Carson, B.S.
Integration of brain and bone in craniosynostosis.
Presented at the Annual Meeting of the American Cleft Palate-Craniofacial Association, Asheville, NC

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

Williams, F.L. and Richtsmeier, J.T.
Comparison of mandibular landmarks from computed tomography and 3D digitizer data.
Clin Anat 16(6):494-500 abstract

Zeiger JS, Hetmanski JB, Beaty TH, VanderKolk CA, Wyszynski DF, Bailey-Wilson JE, de Luna RO, Perandones C, Tolarova MM, Mosby T, Bennun R, Segovia M, Calda P, Pugh EW, Doheny K, McIntosh I
Evidence for linkage of nonsynodromic cleft lip with or without cleft palate to a region on chromosome 2.
Eur J Hum Genet 11(11):835-839 abstract

Zumpano, M.P., and Richtsmeier, J.T.
Growth-related shape changes in the fetal craniofacial complex of humans (Homo sapiens) and pigtailed macaques (Macaca nemestrina): a 3D-CT comparative analysis.
Am J Phys Anthropol 120(4):339-351 abstract

2002

Aldridge, K., Marsh, J.L., Govier, D., and Richtsmeier, J.T.
Central nervous system phenotypes in craniosynostosis.
J Anat 201:31-39 abstract

Burrows, A.M., Cole, T.M. III., Mooney, M.P., Smith, T.D., Losken, H.W., and Siegel, M.L.
Mandibular form in a rabbit model of familial, nonsyndromic coronal suture synostosis.
J Craniofac Surg 13:244-250 abstract

Cai, J., Ash, D., and Jabs, E.W.
SAGE Analysis from 1ug of Total RNA, In Unit 19.4 "Serial Analysis of Gene Expression Using 1 Microgram Total RNA" for Supplement 16.
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

Carver, E.A., and Gridley, T.
Epithelial-mesenchymal transitions and cancer.
Curr Genomics 3:355-361

Carver, E.A., Oram, K.F., and Gridley, T.
Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
Anatom Record 268:90-92 abstract

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

Cole, T.M. III., Lele, S., and Richtsmeier, J.T.
A parametric bootstrap approach to the detection of phylogenetic signals in landmark data.
Morphometrics, Shape, and Phylogenetics.(MacLeod, N.& Forey, P., eds.) London: Taylor and Francis. pp. 194-219

Ip, Y.T., and Gridley, T.
Cell movements during gastrulation: snail dependent and independent pathways.
Curr Opinion Genet Dev 12:423-429 abstract

Kelley, R.I., Kratz, L.E., Glaser, R.L., Netzloff, M.L., Wolf, L.M., and Jabs, E.W.
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Am J Med Genet 110:95-102 abstract

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

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

Mitchell, L.E., Beaty, T.H., Lidral, A.C., Munger, R.G., Murray, J.C., Saal, H.M., and Wyszynski, D.F.
Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a workshop of the international consortium for oral clefts genetics.
Cleft Palate Craniofac J 39(1):93-100. abstract

Mooney, M.P., and Siegel, M.I. (eds)
Understanding Craniofacial Anomalies.
The Etiopathogenesis of Craniosynostosis and Facial Clefting, John W. Wiley and Sons

Mooney, M.P., Siegel, M.I., and Opperman, L.A.
Animal models of craniosynostosis: Experimental, congenital, and transgenic.
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostosis and Facial Clefting, (Mooney, M.P. and Siegel, M.I. eds) John W. Wiley and Sons

Mooney, M.P., Siegel, M.I., Smith, T.D. and Burrow, A.M.
Evolutionary changes in the cranial base and vault: Establishing the primate form.
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostosis and Facial Clefting, (Mooney, M.P., and Siegel, M.I., eds.) John W. Wiley and Sons

Moursi, A.M., Winnard, P.L., Winnard, A.V., Rubenstrunk, J.M., and Mooney, M.P.
Fibroblast Growth Factor 2 induces increased calvarial osteoblast proliferation and cranial suture fusion.
Cleft Palate Craniofac J 39-487-496 abstract

Nott, R.L., Stelnicki, E.J., Mack, J.A., Ben, Y., Mitchell, R., and Mooney, M.P.
Comparison of hedgehog and patched-1 protein expression in the cranial sutures of craniosynostotic and wild-type rabbits.
Plast Reconstruc Surg 110:515-522 abstract

Nott, R.L., Stelnicki, E.J., Mack, J.A., Ben, Y., Mitchell, R., and Mooney, M.P.
Changes in the protein expression of hedgehog and patched-1 in perisutural tissues induced by cranial distraction.
Plast Reconstruc Surg 110:523-532 abstract

Putz, D.A., Smith, T.D., Burrows, A.M., Cooper, G.M., Dechant, J., Losken, H.W., Siegel, M.I., and Mooney, M.P.
Cranial base changes following coronal suturectomy in craniosynostotic rabbits.
Orthodontics Craniofac Res 5:90-103 abstract

Putz, D.A., Weinberg, S.M., Smith, T.D., Burrows, A.M., Cooper, G.M., Losken, H.W., Siegel, M.I., and Mooney, M.P.
Coronal suturectomy does not cause acute postoperative displacement in the cranial bases of craniosynostotic rabbits.
J Craniofac Surg 13:196-201 abstract

Richtsmeier Jt, Cole TM III, Leszl J, Hill CA, Aquino V, and Reeves RH
Development of skull dysmorphology in Ts65Dn segmentally trisomic mice.
American Journal of Human Genetics

Richtsmeier, J.T.
Cranial vault dysmorphology and growth in craniosynostosis.
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostosis and Facial Clefting, (Mooney, M.P. and Siegel, M.I., eds.) John Wiley and Sons, pp. 321-341

Richtsmeier, J.T., Zumwalt, A., Carlson, E., Epstein, C.J., and Reeves, R.H.
Craniofacial phenotypes in segmentally trisomic mouse models for Down Syndrome.
Amer. J. Med. Genetics 107(4): 317-324 abstract

Richtsmeier, J.T., Cole, T.M., III, Leszl, J., Hill, C.A., Aquino, V., and Reeves, R.H.
Development of skull dysmorphology in Ts65Dn seqmentally trisomic mice. Posters presented at the Annual Meeting of the American Society of Human Genetics, Baltimore, MD.
Am J Hum Genet 71(4):280

Richtsmeier, J.T., Deleon, V.B., and Lele, S.R.
The promise of geometric morphometrics.
Yearbook Phys Anthropol 45:63-91 abstract

Smith, T.D., Mooney, M.P., Burrows, A.M., and Siegel, M.I.
Cranial base morphology and growth in facial clefting.
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostosis and Facial Clefting, (Mooney, M.P. and Siegel, M.I., eds.), John Wiley and Sons, New York, 307-320

Splendore, A., Passos-Bueno, M.R., Jabs, E.W., van Maldergem, L., and Wulfsberg, E.A.,
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
Am J Med Genet, 111(3):324-327 abstract

Stetzer, K.M. Cooper, G.M., Gassner, R., Kapucu, R., Mundell, R., and Mooney, M.P.
The effects of fixation type and guided tissue regeneration on maxillary osteotomy healing in rabbits.
J Oral Maxillofac Surg 60:427-436 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

Zeiger, J.S., Beaty, T.H., Hetmanski, J.B., Wang, H., Scott, A.F., Kasch, L., Raymond, G., Jabs, E.W., and Vander Kolk, C.,
Genetic and environmental risk factors for sagittal craniosynostosis.
J Craniofac Surg, 13(5):602-606 abstract

Zhao, P., Iezzi, S., Carver, E., Dressman, D., Gridley, T., Sartorelli, V., and Hoffman, E.P.
Slug is a novel downstream target of MyoD: temporal profiling in muscle regeneration.
J Biol Chem 277(33):30091-30101 abstract

2001

Beamer, W.G., Shultz, K.L., Donahue, L.R., Churchill, G.A., Sen, S., Wergedal, J.R., Baylink, D.J., and Rosen, C.J.
Quantitative trait loci for femoral and lumbar vertebral bone mineral density in C57Bl/6J and C3H/HeJ inbred strains of mice.
J Bone Miner Res 16(7):1195-1206 abstract

Beaty, T.H., Wang, H., Hetmanski, J.B., Fan, Y.T., Zeiger, J.S., Liang, Y., Chiu, Y.F., VanderKolk,, C.A., Seifert, K.C., Wulfsberg, E.A., Raymond, G., Panny, S.R., and McIntosh, I.
A case-control study of nonsyndromic oral clefts in Maryland.
Ann Epidemiol 11(6):434-442 abstract

Bouxsein, M.L., Mueller, R., Uchiyama, T., Mytar, Turner, C.H., Donahue, L.R., Rosen, C.J., and Beamer, W.G.
Assessing the Genetic Determinants of Vertebral Trabecular Bone Density and Microarchitecture in Mice, Twenty-Third Annual Meeting of the American Society for Bone and Mineral Research, Phoenix, AZ, October 12-16, 2001.
J Bone Miner Res 16(Suppl 1):S153.

Bronson, R.T., Donahue, L.R., Samples, R., Kim, J.H., and Naggert, J.K.
Mice with mutations in the mahogany gene Atrn have cerebral spongiform changes.
J Neuropathol Exp Neurol 60(7):724-730 abstract

Carver, E.A., Jiang, R., Lan, Y., Oram, K.F. and Gridley, T.
The mouse Snail gene encodes a key regulator of the epithelial-mesenchymal transition.
Mol. Cell. Biol. 21(23):8184-8188 abstract

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

DeLeon, V.B., Zumpano, M.P., and Richtsmeier, J.T.
The effect of neurocranial surgery on basicranial morphology in isolated sagittal craniosynostosis.
Cleft Palate-Craniofacial J 38(2):134-146 abstract

Donahue, L.R., Beamer, W.G., Bouxsein, M.L., Muller, R., Turner, C.H., Shultz, K.L., and Rosen, C.J.
Partitioning the Genetic Regulation of Bone Mineral Density: Loci Independent of Growth Hormone and IGF-I Regulation. Twenty-Third Annual Meeting of the American Society For Bone and Mineral Research, Phoenix, AZ, October 12-16, 2001.
J Bone Miner Res 16(Suppl 1):198.

Gu, W., Edderkaoui, B., Beamer, W., Li, X., Sheng, H.C.M., Wergedal, J., Shultz, K., Lau, K.H.W., Donahue, L.R., Rosen, C., Mohan, S., and Baylink, D.J.
Studies Using Congenic Mice Reveal That Chromsome 1 QTL Locus in Cast/EiJ Mouse Contributes to 30% Variation in BMD Difference Between CAST and C57BL Mice. Twenty-Third Annual Meeting of the American Society for Bone and Mineral Research, Phoenix, AZ, October 12-16, 2001.
Bone Miner Res 16(Suppl 1):S248.

Jabs, E.W.
A TWIST in the fate of human osteoblasts identifies signaling moleculars involved in skull development.
J Clin Invest 107(9):1075-1077 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

Lele, S., and Richtsmeier, J.T.
An invariant approach to the statistical analysis of shapes. Interdisciplinary studies in statistics series
Chapman and Hall-CRC Press, London

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

Okajima, K., Paznekas, W.A., Burstyn, T., and Jabs, E.W.
Polymorphism Report: polymorphism in the Human SNAIL(SNAI1)gene.
Mol Cell Probes 15(1):53-55 abstract

Reeves, R.H., Baxter, L.L., and Richtsmeier J.T.
Too much of a good thing: mechanisms of gene action in Down Syndrome.
Trends Genet 17(2):83-88 abstract

Richman, C., Kutilek, S., Miyakoshi, N., Srivastava, A.K., Beamer, W.G., Donahue, L.R., Rosen, C.J., Wergedal, J.E., Baylink, D.J., and Mohan, S.
Postnatal and pubertal skeletal changes contribute predominantly to the differences in peak bone density between C3H/HeJ and C57BL/6J mice.
J Bone Miner Res 16(2):386-397 abstract

Rosen, C.J., Beamer, W.G., and Donahue, L.R.
Defining the genetics of osteoporosis: using the mouse to understand man.
Osteoporos Int 12(10):803-810 abstract

Turner, C.H., Hsieh, Y.F., Muller, R., Bouxsein, M.L., Rosen, C.J., McCrann, M.E., Donahue L.R., and Beamer, W.G.
Variation in bone biomechanical properties and microstructure in BXH recombinant inbred mice.
J Bone Miner Res 16(2):206-213 abstract

Turner, C.H., Sun, Q., Bouxsein, M.L., Rosen, C.J., Donahue, L.R., Shultz, K.L., and Beamer, W.G.
Major Genetic Influence on Femoral Stiffness and Strength Identified on Mouse Chromosome 4. Twenty-Third Annual Meeting of the American Society for Bone and Mineral Research, Phoenix, AZ, October 12-16, 2001.
J Bone Miner Res 16(Suppl 1):S168.

Wyszynski, D.F.
Dysmorphology in the Bible and the Talmud.
Teratology 64(4):221-225 abstract

2000

Baxter, L.L., Moran, T.H., Richtsmeier, J.T., Troncoso, J., and Reeves, R.H.
Discovery and genetic localization of Down Syndrome cerebellar phenotypes using the Ts65Dn mouse.
Hum Mol Genet 9(2):195-202 abstract

Beamer, W.G., Donahue, L.R., and Rosen, C.J.
Insulin-like growth factor I and bone: from mouse to man.
Growth Horm IGF Res Suppl B:S103-S105 abstract

Beamer, W.G., Rosen, C.J., Bronson, R.T., Gu, W, Donahue, L.R., Baylink, D.J., Richardson, C.C., Crawford, G.C., and Barker, J.E.
Spontaneous fracture (sfx): a mouse genetic model of defective peripubertal bone formation.
Bone 27:619-626 abstract

Boyadjiev, S.A., and Jabs, E.W.
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
Clin Genet 57(4): 253-66. Review abstract

Davisson, M.T., Johnson, K.R., Bronson, R.T., Ward-Bailey, P.F., Cook, S.A., Harris, B.S., and Donahue, L.R.
Grey intense: a new mouse mutation affecting pigmentation.
Mamm Genome 11(12):1139-1141 abstract

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

Kodama, Y., Miyakoshi, N., Linkhart, T.L., Wergedal, J., Srivastava, A., Beamer, W.G., Donahue, L.R., Rosen, C.J., Baylink, D.J., and Farley, J.R.
Effects of dietary calcium depletion and repletion on dynamic determinants of tibial bone volume in two inbred strains of mice.
Bone 27:445-452 abstract

Kodama, Y., Umemura, Y., Nagasawa, S., Beamer, W.G., Donahue, L.R., Rosen, C.J., Baylink, D.J., and Farley, J.R.
Exercise and mechanical loading increase periosteal bone formation and whole bone strength in C57BL/6J mice but not in C3H/HeJ mice.
Calcif Tissue Int 66:298-306 abstract

Krasner, A., Wallace, L., Thiagalingam, A., Jones, C., Lengauer, C., Minahan, L., Ma, Y., Kalikin, L., Feinberg, A.P., Jabs, E.W., Tunnacliffe, A., Baylin, S.B., Ball, D.W., and Nelkin, B.D.
Cloning and chromosomal localization of the human BARX2 homeobox protein gene.
Gene 250(1-2):171-180 abstract

Norris, R.A., Scott, K.K., Moore, C.S., Stetten, G., Brown, C.R., Jabs, E.W., Wulfsberg, E.A., Yu, J., and Kern, M.J.
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.
Mamm Genome 11(11):1000-1005 abstract

Richtsmeier, J.T., Baxter, L.L., and Reeves, R.H.
Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.
Dev Dyn 217(2):137-145 abstract

Rosen, C.J., Churchill, G.A., Donahue, L.R., Shultz, K.L., Burgess, J.K., Powell, D.R., and Beamer, W.G.
Mapping quantitative trait loci for serum insulin-like growth factor-I levels in mice.
Bone 27(4):521-528 abstract

Turner, C.H., Hsieh, Y.F., Muller, R., Bouxsein, M.L., Baylink, D.J., Rosen, C.J., Grynpas, M.D., Donahue, L.R., and Beamer, W.G.
Genetic regulation of cortical and trabecular bone strength and microstructure in inbred strains of mice.
J Bone Miner Res 15(6):1126-1131 abstract

Ward-Bailey, P.F., Wood, B., Johnson, K.R., Bronson, R.T., Donahue, L.R., and Davisson, M.T.
Neuromuscular ataxia: a new spontaneous mutation in the mouse.
Mamm Genome 11(10):820-823 abstract

Zhao, G., Monier-Faugere, M.C., Langub, M.C., Geng, Z., Nakayama, T., Pike, J.W., Chernausek, S.D., Rosen, C.J., Donahue, L.R., Malluche, H.H., Fagin, J.A., and Clemens, T.L.
Targeted overexpression of insulin-like growth factor I to osteoblasts of transgenic mice: increased trabecular bone volume without increased osteoblast proliferation.
Endocrinology,141(7):2674-2682 abstract

1999

Beamer, W.G., Shultz, K.L., Churchill, G.A., Frankel, W.N., Baylink, D.J., Rosen, C.J., and Donahue, L.R.
Quantitative trait loci for bone density in C57BL/6J and CAST/EiJ inbred mice.
Mamm Genome 10(11):1043-1049 abstract

Boyadjiev, S.A., Jabs, E.W., LaBuda, M., Jamal, J.E., Torbergsen, T., Ptacek, L.J. 2nd, Rogers, R.C., Nyberg-Hansen, R., Opjordsmoen, S., Zeller, C.B., Stine, O.C., Stalker, H.J., Zori, R.T., and Shapiro, R.E.
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics 58(1):34-40 abstract

Fang, S, Srinivasan, R, Raghavan, R, and Richtsmeier, J.
Volume morphing and rendering - an integrated approach.
Computer Aided Geometric Design pp. 404-415, Newport Beach, CA

Johnson, K.R., Cook, S.A., Erway, L.C., Matthews, A.N., Sanford, L.P., Paradies, N.E., and Friedman, R.A.
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.
Hum Mol Gen 8(4):645-653 abstract

Kodama, Y., Dimai, H.P., Wergedal, J., Sheng, M., Malpe, R., Kutilek, S., Beamer, W.G., Rosen, C., Donahue, L.R., Baylink, D.J., and Farley, J.
Cortical tibial bone volume in two strains of mice: effects of sciatic neurectomy and genetic regulation of bone response to mechanical loading.
Bone 25(2):183-190 abstract

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

Linkhart, T.A., Linkhart, S.G., Kodama, Y., Farley, J.R., Dimai, H.P., Wright, K.R., Wergedal, J.E., Sheng, M., Beamer, W.G., Donahue, L.R., Rosen, C.J., and Baylink, D.J.
Osteoclast formation in bone marrow cultures from two inbred strains of mice with different bone densities.
Bone Miner Res 14(1):39-46 abstract

Paznekas, W.A., Okajima, K., Schertzer, M., Wood, S., and Jabs, E.W.
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P).
Genomics 62:42-49 abstract

Sheng, M.H., Baylink, D.J., Beamer, W.G., Donahue, L.R., Rosen, C.J., Lau, K.H., and Wergedal, J.E.
Histomorphometric studies show that bone formation and bone mineral apposition rates are greater in C3H/HeJ (high-density) than C57BL/6J (low-density) mice during growth.
Bone 25(4):421-429 abstract

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

Wyszynski, D.F., and Mitchell, L.E.
Report of the newly formed International Consortium for Oral Clefts Genetics.
Cleft Palate Craniofac J 36(2): 174-178 abstract

Zheng, Q.Y., Johnson, K.R., and Erway, L.C.
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses.
Hear. Res. 130(1-2): 94-107 abstract

1998

Cohen, M.E., Yin, M., Paznekas, W.A., Schertzer, M., Wood, S., and Jabs, E.W.
Human SLUG gene organization, expression, and chromosome map location on 8q.
Genomics 51(3):468-471 abstract

Cole T.M. III., and Richtsmeier J.T.
A simple method for visualization of influential landmarks when using euclidean distance matrix analysis.
Am J Phys Anthropol 107(3): 273-283 abstract

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

Johnson, K.R., Cook, S.A., and Zheng, Q.Y.
The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome.
Mamm Genome 9: 889-892 abstract

Johnson, K.R., Sweet, H.O., Donahue, L.R., Ward-Bailey, P., Bronson, R.T., and Davisson, M.T.
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
Hum. Mol. Gen. 7: 1033-1038 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

Richtsmeier, J.T., Valeri, C., Krovitz, G., Cole, T., and Lele, S.
Pre-operative morphology and development in sagittal synostosis.
J Craniofac Genet Dev Biol 18(2):64-78 abstract

Tretter, A.E., Saunders, R.C., Meyers, C.M., Dungan, J.S., Grumbach, K., Sun, C.C., Campbell, A.B., and Wulfsberg, E.A.
Antenatal diagnosis of lethal skeletal dysplasias.
Am J Med Genet 75(5): 518-522 abstract

Valeri, C.J., Cole, T. III., Lele, S., and Richtsmeier, J.T.
Capturing data from three-dimensional surfaces using fuzzy landmarks.
Am J Phys Anthropol 107(1):113-124 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.
Genetic epidemiology: an expanding scientific discipline.
Rev Panam Salud Publica (1): 26-34 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

Beaty, T.H., Maestri, N.E., Hetmanski, J.B., Wyszynski, D.F., Vanderkolk, C.A., Simpson, J.C., McIntosh, I., Smith, E.A., Zeiger, J.S., Raymond, G.V., Panny, S.R., Tifft, C.J., Lewanda, A.F., Cristion, C.A., and Wulfsberg, E.A.
Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996.
Cleft Palate Craniofac J 34(5): 447-454 abstract

Doheny, K.F., Rasmussen, S.A., Rutberg, J., Semenza, G.L., and Stamberg, J. et al.
Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins.
Am J Med Genet 69: 188-193 abstract

Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma ,M., McKusick, V.A., and Jabs, E.W.
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
Am J Hum Genet 61:1405-1412 abstract

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

Johnson, K.R., Erway, L.C., Cook, S.A., Willott, J.F., and Zheng, Q.Y.
A major gene affecting age-related hearing loss in C57BL/6J mice.
Hear Res 114: 83-92 abstract

Maestri, N.E., Beaty, T.H., Hetmanski, J., Smith, E.A., McIntosh, I., Wyszynski, D.F., Liang, K.Y., Duffy, D.L., and Vander Kolk, C.
Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.
Am J Med Genet 73(3): 337-344 abstract

Paznekas, W.A., Zhang, N., Gridley, T., and Jabs, E.W.
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.
Biochem Biophys Res Comm 238:1-6 abstract

Rogers, J., Mahaney, M.C., Beamer, W.G., Donahue, L.R., and Rosen, C.J.
Beyond one gene-one disease: alternative strategies for deciphering genetic determinants of osteoporosis.
Calcif Tissue Int 60: 225-228 abstract

Schnur, R.E., Greenbaum, B.H., Heymann, W.R., Christensen, K., Buck, A.S., and Reid, C.S.
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.
Am J Med Genet 3: 72(1): 24-29. Review abstract

Singhal, V.K., Mooney M.P., Burrows A.M., Wigginton W., Losken H.W., Smith T.D., Towbin R., and Siegel M.I.
Age related changes in intracranial volume in rabbits with craniosynostosis.
Plast Reconstr Surg 100(5): 1121-1128 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

Smith, T.D., Siegel, M.I., Mooney, M.P., Burdi, A.R., Burrows, A.M., and Todhunter, J.S.
Prenatal growth of the human vomeronasal organ.
Anat Rec 248: 447-455 abstract

Winograd, J., Reilly, M.P., Roe, R., Lutz, J., Laughner, E., Xu, X., Hu, L., Asakura, T., Vander Kolk, C., Strandberg, J.D., and Semenza, G.L.
Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice.
Hum Mol Genet 6(3):369-379 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

Wyszynski, D.F., Maestri, N., Lewanda, A.F., McIntosh, I., Smith, E.A., Garcia-Delgado, C., Vinageras-Guarneros, E., Wulfsberg, E., and Beaty, T.H.
No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.
Hum Hered 47(2):101-109 abstract

Wyszynski, D.F., Maestri, N., McIntosh, I., Smith, E.A., Lewanda, A.F., Garcia-Delgado, C., Vinageras-Guarneros, E., Wulfsberg, E., and Beaty, T.H.
Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families.
Hum Genet 99(1): 22-26 abstract

Wyszynski, D.F., Rodas, E., Morici, P., Daveggio, S., Gallino, F.R., Manetti, G., and Tonietto, A.
Medical informatics in perinatology project AGUSTINA in Argentina.
Medicina (B Aires) 57(3): 265-269 abstract

1996

Beamer, W.G., Donahue, L.R., Rosen, C.J., and Baylink, D.J.
Genetic variability in adult bone density among inbred strains of mice.
Bone 18: 397-403 abstract

Burrows, A.M., Mooney, M.P., Smith, T.D., Losken, H.W., and Siegel, M.I.
Development of plagiocephaly in rabbits with unicoronal synostosis.
J Neurosurg 85: 929-936 abstract

Donahue, L.R., Cook, S.A., Johnson, K.R., Bronson, R.T., and Davisson, M.T.
Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain.
Mamm Genome 7: 871-876 abstract

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

Lele, S. and Cole, T.M. III.
A new test for shape difference when variance-covariance matrices are unequal.
J Hum Evol. 31:193-212

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

Mallo, M., and Gridley, T.
Development of the mammalian ear: coordinate regulation of formation of the tympanic ring and the external acoustic meatus.
Development 122: 173-179 abstract

Meyers, G.A., Day, D., Goldberg, R., Daentl, D.L., Przylepa, K.A., Abrams, L.J., Graham, J.M., Jr., Feingold, M., Moeschler, J.B., Rawnsley, E., Scott, A.F., and Jabs, E.W.
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Am J Hum Genet 58:491-498 abstract

Meyers, G.A., Day, D., Goldberg, R., Daentl, D.L., Przylepa, K.A., Abrams, L.J., Graham, J.M., Jr., Feingold, M., Moeschler, J.B., Rawnsley, E., Scott, A.F., and Jabs, E.W.
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Am J Hum Genet 58(3):491-498 abstract

Mooney, M.P., Aston, C.E., Siegel, M.I., Losken, H.W., Smith, T.D., Burrows, A.M., Wenger, S.L., Caruso, K., Siegel, B., and Ferrell, R.E.
Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.
J Craniofac Genet Dev Biol 16: 52-63 abstract

Mooney, M.P., Smith, T.D., Burrows, A.M., Langdon, H.L., Stone, C.E., Losken, H.W., Caruso, K., and Siegel, M.I.
Coronal suture pathology and synostotic progression in rabbits with congenital craniosynostosis.
Cleft Palate Craniofac J 33: 369-378 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

Smith, T.D., Siegel, M.I., Mooney, M.P., Burdi, A.R., and Todhunter, J.S.
Vomeronasal organ growth and development in normal and cleft lip and palate human fetuses.
Cleft Palate Craniofac J 33: 385-394 abstract

Sweet, H.O., Bronson, R.T., Donahue, L.T., and Davisson, M.T.
Mesenchymal dysplasia: a recessive mutation on chromosome 1 of the mouse.
J Hered 87(2):87-95 abstract

Sweet, H.O., Marks, S.C. Jr., MacKay, C.A., Johnson, K.R., and Davisson, M.T.
Dense incisors (din): a new mouse mutation on chromosome 16 affecting tooth eruption and body size.
J Hered 87: 162-167 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

Lele, S. and Richtsmeier, J.T.
Euclidean distance matrix analysis: confidence intervals for form and growth differences.
Am J Phys Anthropol 98:73-86 abstract

Li, X., Park, W.J., Pyeritz, R.E., and Jabs, E.W.
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
Nat Genetics 9(3):232-233 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., Bellus, G.A., and Jabs, E.W.
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Am J Hum Genet 57(4):748-754 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

Reeves, R.H., Irving, N.G., Moran, T.H., Wohn, A., Kitt, C., Sisodia, S.S., Schmidt, C., Bronson, R.T., and Davisson, M.T.
A mouse model for Down syndrome exhibits learning and behaviour deficits.
Nat Genet 11(2): 177-184 abstract

Rice, D.S. Williams, R.W., Ward-Bailey, P., Johnson, K.R., Harris, B.S., Davisson, M.T., and Goldowitz, D.
Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy.
Mamm Genome 6: 546-548 abstract

Richtsmeier, J.T., Paik, C.H., Elfert, P.C., Cole, T.M. III., and Dahlman, H.R.
Precision, repeatability, and validation of the localization of cranial landmarks using computed tomography scans.
Cleft Palate Craniofac J 32(3):217-227 abstract

Rivera-Perez, J.A., Mallo, M., Gendron-Maguire, M., Gridley, T., and Behringer, R.R.
Goosecoid is not an essential component of the mouse gastrula organizer but is required for