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
Human Development Section

Selected Publications

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

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.  Mutations in the carboxy-terminal domain of Sonic Hedgehog cause holoprosencephaly.  Hum Mol Genet, 6:1847-1853. 1997. [PubMed]

Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet, 22:196-8. 1999. [PubMed]

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

Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Towbin J, Bowers P, Marino B, Schier AF, Shen MM, Muenke M, Casey B.  Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.  Nature Genetics, 26:365-369. 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. Amer J Hum Genet, 70:776-780. 2002. [PubMed]

Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Altaba AR, 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 AN, Grange DK, Wang A, Grachtchouk M, Dlugosz AA, 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 KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, 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 MV, Karkera, JD, Velez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin, JA, Goldmuntz E, Feldman B, 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 FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ. 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 JI, 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, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banjerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, 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]

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]

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]

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, 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 holprosencephaly.  PLoSOne, 7:e39026 doi:10 1371. 2012. [PubMed]

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Last Updated: June 27, 2014