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PrintMaximilian Muenke, M.D.
Chief & Senior Investigator, Medical Genetics Branch
Head, Human Development Section
Director, Medical Genetics Residency and Fellowship Training Programs
Director, Combined Pediatrics and Medical Genetics Residency Training Program
Selected Publications
Bendavid, C., Haddad, B.R., Griffin, A., Huizing, M., Gicquel, I., Dubourg, C., Cavalli, C.R., Long, R., Ouspenskaia, M., Odent, S., Lacbawan, F., David, V., Muenke, M. Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with normal karyotype. J. Med. Genet, 43(6):496-500. 2006. [PubMed]
Jeong, Y., El-Jaick, K., Roessler, E., Muenke, M., Epstein, D.J. A functional screen for Sonic hedgehog regulatory elements across a 1 MB interval identifies long-range ventral forebrain enhancers. Development, 133:761-772. 2006. [PubMed]
Russell, H.F., Wallis, D., Mazzocco, M.M., Moshang, T., Zackai, E., Zinn, A., Ross, J.L., Muenke, M. Increased prevalence of attention-deficit/hyperactivity disorder (ADHD) in girls with Turner syndrome with no evidence of an imprinting effect for cognitive performance or ADHD. Ped. Psych, (9):945-55. 2006. [PubMed]
Jain, M., Palacio, L.G., Castellanos, F.X., Palacio, J.D., Pineda, D., Restrepo, M.I., Muñoz, J.F., Lopera, F., Wallis, D., Berg, K., Bailey-Wilson, J.E., Arcos-Burgos, M., Muenke, M. Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol. Psychiatr, 61:1329-1339. 2007. [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. Mol. Genet. Metabolism, 90:97-111. 2007. [PubMed]
Haas, D., Morgenthaler, J., Lacbawan, F., Long, R., Runz, H., Garbade, S.F., Zschocke, J., Kelley, R.I., Okun, J.G., Hoffmann, G.F., Muenke, M. Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. J. Med. Genet, 44:298-305. 2007. [PubMed]
Edison, R., Berg, K., Kelley, R.I., Rotimi, C., Remaley, A., Stevenson, R.E., Muenke, M. Adverse birth outcome among mothers with low serum cholesterol. Pediatrics, 120:723-733. 2007. [PubMed]
Doherty, E.S., Lacbawan, F., Hadley, D.W., Brewer, C., Zalewski, C., Kim, H.J., Glass, P., Solomon, B., Rosenbaum, K., Domingo, D.L., Hart, T.C., Brooks, B., Immken, L., Lowry, R.B., Kimonis, V., Shanske, A.L., Knightly, C., McDonald-McGinn, D., Zackai, E.H., Muenke, M. Muenke syndrome: expansion of the phenotype and review of the literature. Am. J. Med. Genet, 143(24):3204-15. 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., Baxevanis, A.D., Schier, A.F., Muenke, M. Loss-of-function mutations in the Growth Differentiation Factor-1 (GDF1) are associated with congenital heart defects in humans. Am. J. Hum. Genet, 81(5):987-94. 2007. [PubMed]
Cordero, D.R., Bendavid, C., Shanske, A.L., Haddad, B.R., Muenke, M. Holoprosencephaly-Polydactyly syndrome: in search of an etiology. Eur. J. Med. Genet, 51:106-112. 2008. [PubMed]
Acosta, M.T., Castellanos, F.X., Bolton, K., Balog, J., Eagen, P., Nee, L., Jones, J., Palacio, L., Sarampote, C., Russell, H.F., Berg, K., Arcos-Burgos, M, Muenke, M. Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J. Am. Acad. Child Adolesc. Psych, 47:797-807. 2008. [PubMed]
Wallis, D, Lacbawan F, Jain, M., Der Kaloustian, V.M., Steiner, C.E., Moeschler, J.B., Losken, H.W., Kaitila, I.I., Cantrell, S., Proud, V.K., Carey, J.C., Day, D.W., Lev, D., Teebi, A.S., Robinson, L.K., Hoyme, H.E., Al-Torki, N., Siegel-Bartelt, J., Mulliken, J.B., Robin, N.H., Saavedra, D., Zackai, E.H., Muenke, M. Additional EBFNB1 mutations in craniofrontonasal syndrome. Am J. Med. Genet, 146A:2008-2012. 2008. [PubMed]
Roessler, E., Ouspenskaia, M.V., Karkera, J.D., Vélez, J.I., Kantipong, A,. Lacbawan, F., Bowers, P., Belmont, J.W., Towbin, J., Goldmuntz, E., Feldman, B., Muenke, M. Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am. J. Hum. Genet, 83:18-29. 2008. [PubMed]
Jain, M., Wallis, D., Robin, N.H., Wavrant De Vrieze, F., Hardy, J.A., Bosse, K., Betz, R.C., Nöthen, M.M., Ghadami, M. Arcos-Burgos, M., Muenke, M. Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? Am. J. Med. Genet, 146(A):2308-2311. 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]
Allanson, J.E., Cunniff, C., Hoyme, H.E., McGaughran, J., Muenke, M., Neri, G. Elements of morphology: head and face. Am. J. Med. Genet, Part A: 149A:6-28. 2009. [PubMed]
Lacbawan, F., Solomon, B., Roessler, E., El-Jaick, K, Domené, S., Vélez, J.I., Zhou, N., Hadley, D., Balog, J., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S.D., Clarkson, K., Lichty, A., Clegg, N., Delgado, M., Levey, E., Stashinko, E., Potocki, L., VanAllen, M., Clayton-Smith, J., Donnai, D., Bianchi, D., Juliusson, P., Njølstad, P.R., Brunner, H., Carey, J., Hehr, U., Müsebeck, J., Wieacker, P.F., Hennekam, R.C.M., van den Boogaard, M.-J.H., van Haeringen, A., Paulussen, A., Herbergs, J., Schrander-Stumpel, C., Janecke, A., Chitayat, D., Hahn, J., McDonald-McGinn, D.M., Zackai, E.H., Dobyns, W.B., Muenke, M. Clinical spectrum SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype, and function. J. Med. Genet, 46(6):389-98. 2009. [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:E541-554, 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 microform features in humans. 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):919-25. 2009. [PubMed]
Solomon, B., Potocki, L., Oyer, C., Muenke, M.: Holoprosencephaly in an 8.5 week triploidy gestation. Clin. Dysmorph, 18(3):166-7. 2009. [PubMed]
Book Chapters
Doherty, E., Muenke, M.: Muenke syndrome. In: GeneClinics: Clinical Genetic Information Resource. 2006.
Adams, D., Muenke, M.: Birth defects. Chapter in: Haith, M.M., Benson, J.B. (eds.): Encyclopedia of Infant and Early Childhood Development. Elsevier; 1:192-203. 2008.
Wallis, D., Russell, H.F., Muenke, M.: Genetics of attention deficit/hyperactivity disorder. J. Pediatr. Psychol, 33:1085-1099. 2008.
Acosta, M.T., Arcos-Burgos, M., Muenke, M.: Attention deficit hyperactivity disorder. In: Berntson, G.G., Cacioppo, J.T. (eds.): Handbook of Neuroscience for the Behavioral Sciences. John Wiley & Sons [In Press]
Last Reviewed: December 20, 2011
