Roessler Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Erich Roessler, M.D., Ph.D.

Associate Investigator, Medical Genetics Branch

Selected Publications

Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.-C. and Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet, 14: 357-360. 1996. [PubMed]

Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet, 22:196-199. 1999. [PubMed]

Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M., Elledge S.J. Mutations in TGIF cause holoprosencephaly and link Nodal signaling to human neural axis determination. Nat Genet, 25:205-208. 2000. [PubMed]

Roessler E., Du Y.Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., Roeder E.R., Ming J.E., Altaba A.R., Muenke M. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA, 100:13424-13429. 2003. [PubMed]

Roessler E., Ermilov A.N., Grange D.K., Wang A., Grachtchouk M., Dlugosz A.A., Muenke M. A previously unidentified amino-termial domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet, 14:2181-2188. 2005. [PubMed]

Jeong Y., El-Jaick K., Roessler E., Muenke M., Epstein D. A functional screen for Sonic hedgehog regulatory elements across a 1 Mb interval identifies long range ventral forebrain enhancers. Development, (4):761-72. 2006. [PubMed]

El-Jaick, K.B., Powers, S.E., Bartholin, L., Myers, K.R., Hahn, J., Orioli, I.M., Ouspenskaia, M., Lacbawan, F., Roessler, E., Wotton, D., Muenke, M. Functional analysis of mutations in TGIF associated with holoprosencephaly. Molecular Genetics and Metabolism, 90(1):97-111. 2007. [PubMed]

Roessler, E., Ouspenskaia, M.V., Karkera, J.D., Velez, J.I., Kantipong, A., Lacbawan, F., Bowers, P., Belmont, J.W., Towbin, J.A., Goldmuntz, E., Feldman, B., Maximilian Muenke, M. Reduced NODAL signaling strength via mutation of several pathway members is linked to human heart defects and holoprosencephaly. Amer J Hum Genet, 83:18-29. 2008. [PubMed]

Jeong, Y., Leskow, F.C., El-Jaick, K., Roessler, E., Muenke, M., Yocum, A., Dubourg, C., Li, X., Geng, X., Oliver, G., Epstein, D.J. Regulation of a remote Shh Forebrain enhancer by the Six3 Homeoprotein. Nature Genet, 40:1348-1353. 2008. [PubMed]

Domené, S., Roessler, E., El-Jaick, K., Snir, M., Brown, J., Vélez, J.I., Bale, S., Lacbawan, F., Muenke, M., Feldman, B. Mutations in the human SIX3 gene in holoprosencephaly are loss-of-function. Hum Mol Genet, 17:3919-3928. 2008. [PubMed]

Roessler, E., Lacbawan, F., Dubourg, C., Paulussen, A., Herbergs, J., Hehr, U., Bendavid, C., Zhou, N., Ouspenskaia, M., Bale, S., Odent, S., David, V., Muenke, M. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predict loss-of-function as the predominant disease mechanism. Hum Mutat, 30(4): E541-E554. 2009. [PubMed]

Roessler E., Ma Y., Ouspenskaia M.V., Lacbawan F., Beachy P.A., Muenke M. Truncating loss-function mutations of human DISP1 contribute to holoprosencephaly-like features. Hum Genet, 125(4): 393-400. 2009. [PubMed]

Solomon, B.D., Lacbawan F., Jain, M., Roessler, E., Moore, C., Dobyns, W.B., Muenke, M. A novel SIX3 mutation segregates with holoprosencephaly in extended family. Am J Med Genet, 149A(5): 919-925. 2009. [PubMed]

Roessler E., Pei W., Ouspenskaia MV, Karkera J.D., Veléz J.I., Banjerjee-Basu S., Gibney G., Lupo P.J., Mitchell L.E., Towbin J.A., Bowers P., Belmont J.W., Goldmuntz E., Baxevanis A.D., Feldman B., Muenke M. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metabolism, 98(1-2):225-34. 2009. [PubMed]

Roessler E., El-Jaick K.B., Dubourg C., Vélez J.I., Solomon B.D., Pineda-Alvarez D.E., Lacbawan F., Zhou N., Ouspenskaia M.V., Paulussen A., Smeets H.J., Hehr U., Bendavid C., Bale S., Odent S., David V., Muenke M. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predict loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat, 30(10):E921-E935. 2009. [PubMed Central]

Roessler E., Muenke M. The molecular genetics of holoprosencephaly. Amer J Med Genet, Part C, 154C(1): 52-61. 2010. [PubMed]

Pineda-Alvarez D.E., Dubourg C, David V, Roessler E., Muenke, M. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Amer J Med Genet, Part C, 154C(1):93-101. 2010. [PubMed Central]

Solomon B.D., Mecier S., Vélez J.I., Pineda-Alvarez D.E., Wyllie A., Odent S., David V., Roessler E., Muenke M. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet, 154C(1):133-41. 2010. [PubMed]

Kauvar E.F., Solomon B.D., Curry C.J.R., van Essen A.J., Janssen N., Dutra A., Roessler E., Muenke M. Holoprosencephaly and agnathia spectrum: review of the literature and presentation of new patients. Amer J Med Genet, Part C, 154C(1):158-69. 2010. [PubMed]

Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hrdisty E, Tylki-Szymanska A, Pronicka E, Clemeens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczoorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Deaton A, Balog JZ, Hadley D, Zhou N, Velez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 patients. J Med Genet, 47(8):513-524. 2010. [PubMed Central]

Hehr U., Pineda-Alvarez D.E., Zhou N., Hehr A., Schell-Apacik C., Altus C., Daumer-Haas C., Meiner A., Steuemangel P., Roessler E., Winkler J., Muenke M. Heterozygous mutations in SIX3 and SHH are associate with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet, 127(5):555-61. 2010. [PubMed]

Arauz RF, Solomon BD, Pineda_ Alvarez DE, Wendland J, Gropman AL, Parsons JA, Roessler E, Muenke M.  A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans.  Molecular Syndromology, 1:59-66. 2010. [PubMed]

Kauvar, E.F., Hu, P., Pineda-Alvarez, D.E., Solomon, B.D., Dutra. A., Pak, E., Blessing, B., Proud, V., Shanske, A.L., Stevens, C.A., Rosenfeld, J.A., Shaffer, L.G., Roessler, E., Muenke, M. Minimal evidence for a direct involvement of Twisted Gastrulation Homolog 1 (TWSG1) gene in human holoprosencephaly. Mol Genet Metabol, 102:470-480. 2010. [PubMed]

Bae G-u, Domené S, Roessler E, Schachter K, Kang J-S, Muenke M, Krauss RS. Holoprosencephaly-Associated Mutations in CDON Result in Defective Interactions with Other Hedgehog Receptors.  Amer J Hum Genet, 89:231-240. 2011. [PubMed]

Daniel E. Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, C. Evan Siple, Chen-Ming Fan, Maximilian Muenke. Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.  Hum Genet, 131:301-310. 2011. [PubMed]

Pineda-Alvarez D, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M.  A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet, 155A:2713-2720. 2011. [PubMed]

Roessler E, Vélez JI, Zhou N and Muenke. M. Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene x gene interactions. Mol Genet Metabolism, 105(4):658-64. 2012. [PubMed]

Roessler E, Hu P, Hong SK, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly. PLoS One, 7(7):e39026. 2012. [PubMed]

Roessler E, Hu P, Hong SK, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Res A Clin Mol Teratol, 94(11):912-7. 2012. [PubMed]

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. J Med Genet, 49(7):473-9. 2012. [PubMed]

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Last Updated: August 19, 2013