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

Associate Investigator, Medical Genetics Branch

Selected Publications

Belloni E., Muenke M., Roessler E., Traverso G., Siegel-Bartelt., Frumkin A., Mitchell H.F., Donis-Keller H., Helms C., Hing A.V., Heng H.H.Q., Koop B., Martindale D., Rommens J.M., Tsui L.-C. and Scherer S.W. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet, 14:353-356. 1996. [PubMed]

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., Ward D.E., Gaudenz K., Belloni E., Scherer S.W., Donnai D., Siegel-Bartelt J., Tsui L.C., Muenke M. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet, 100:172-181. 1997. [PubMed]

Roessler E., Mittaz L., Du Y., Scott H.S., Chang J., Rossier C., Guipponi M., Matsuda S.P., Muenke M., Antonarakis S.E. Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet, 105:489-495. 1999. [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]

Roessler E., Du Y., Dutra A., Niehrs C., Muenke M. The genomic structure, chromosomal location, and analysis of the human DKK-1 head inducer gene as a candidate for holoprosencephaly. Cytogenet Cell Genet, 89:220-224. 2000. [Full Text]

Roessler E., Muenke M. Midline and laterality defects: left and right meet in the middle. BioEssays, 23:888-900. 2001. [PubMed]

Dela Cruz J., Bamford R.N., Burdine R.D., Roessler E., Donnai D., Schier A.F., Muenke M. A loss of function mutation in the CFC domain of TDGF-1 is associated with human forebrain defects. Hum Genet, 110:422-428. 2002. [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, Muenke M. How a Hedgehog might see HPE. Hum Mol Genet, 12: R15-25. 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, 2007. [In Press].

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Last Reviewed: August 18, 2008