Erich Roessler, M.D., Ph.D.
Associate Investigator, Medical Genetics Branch
Selected Publications
Roessler E., Belloni E., Gaudenz K., Vargas F., Scherer S.W., Tsui L.C., Muenke M. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet, 6:1847-1853. 1997. [PubMed]
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]
Bamford R., Roessler E., Burdine R.D., Saplakoglu U., dela Cruz J., Splitt M., Goodship J.A., Towbin J., Bowers P., Ferrero G.B., Marino B., Schier A.F., Shen M.M., Muenke M., Casey B.M. Loss-of-function mutations in the EGF-CFC gene, CFC1 are associated with human left-right laterality defects. Nat Genet, 26:365-369. & 501. 2000. [PubMed]
Goldmuntz B., Bamford R.N., Karkera J.D., dela Cruz J., Roessler E., Muenke M. CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am J Hum Genet, 70:776-780. 2002. [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]
Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M. V., Mez, J. , Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J. W., Baxevanis, A. D., Schier, A. F., Muenke, M. Loss-of-function mutations in Growth Differentiation Factor - 1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet, 81(5):987-94. 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, 2009. [In Press]
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, 2009. [In Press]
Arcos-Burgos M., et al. (12 authors) Roessler E., (36 authors), Muenke, M. A Common Variant of the Latrophilin 3 Gene, LPHN3, Confers Susceptibility to ADHD and Predicts Effectiveness of Stimulant Medication. Molecular Psychiatry, 2010. [In Press]
Roessler E., Muenke M. The molecular genetics of holoprosencephaly. Amer J Med Genet, Part C, 2010. [In Press]
Pineda-Alvarez D.E., Dubourg C, David V, Roessler E., Muenke, M. Our current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Amer J Med Genet, Part C, 2010. [In Press]
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. Amer J Med Genet, Part C, 2010. [In Press]
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, 2010. [In Press]
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, 2010. [In Press]
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, 2010. [In Press]
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Last Updated: August 23, 2010
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