Muenke Publications

National Human Genome Research Institute

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


Maximilian 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

Solomon, B.D., Mercier, S., Vélez, J.I., Pineda-Alvarez, D.E., Wyllie, A., Zhou, N., Dubourg, C., David, V., Odent, S., Roessler, E., Muenke, M.: Analysis of genotype-phenotype correlations in human holoprosencephaly. Am. J. Med. Genet. Part C: Semin. Med. Genet, 154C:133-141. 2010. [PubMed]
 
Solomon, B.D., Lacbawan, F., Mercier, S., Clegg, N.J., Delgado, M.R., DuBourg, C., David, V., Rosenbaum, K., Olney, A.H., Wehner, L.-E., Hehr, U., Bale, S., Paulussen, A., Smeets H.J., Hardisty, E., Tylki-Szymanka, A., Pronicka, E., Clemens, M., McPherson, E., Hennekam, R.C.M., Hahn, J., Stashinko, E., Levey, E., Wieczorek, D., Majewski, F., Roeder, E., Imaizumi, K., Schell-Apacik, C., Booth, C., Keaton, A., Balog, J.Z., Hadley, D., Zhou, N., Long., B., Pineda-Alvarez, D.E., Odent, S., Roessler, E., Muenke, M.: Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals. J. Med. Genet, 47:513-524. 2010. [PubMed]
 
Arauz, R.F., Solomon, B.D., Pineda-Alvarez, D.E., Gropman, A.L., Parsons, J.A., Roessler, E., Muenke, M.: A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin releasing hormone deficiency in humans. Molec. Syndrom, 1:59-66. 2010. [PubMed]
 
Arcos-Burgos, M., Jain, M., Acosta, M.T., Shively, S., Stanescu, H., Wallis, D., Domené, S., Vélez, J.I., Karkera, J.D., Balog, J., Berg, K., Kleta, R., Gahl, W.A., Roessler, E., Long, R., Lie, J., Pineda, D., Londoño, A.C., Palacio J.D., Arbelaez, A., Lopera, F., Elia, J., Hakonarson, H., Johansson, S., Knappskog, P.M., Haavik, J., Ribases, M., Cormand, B., Bayes, M., Casas, M., Ramos, T., Hervas, A., Maher, B.S., Seitz, C., Freitag, C.M., Palmason H., Meyer, J., Romanos, M., Renner, T., Jacob, C., Lesch, K.-P., Farone, S.V., Swanson, J., Vortmeyer A., Bailey-Wilson, J., Castellanos, F.X., Muenke, M.: A common variant of the lathrophilin 3 gene confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol. Psychiatr, 15:1053-1066. 2010. [PubMed]
 
Hehr, U., Pineda-Alvarez, D.E., Uyanik, G., Hu, P., Zhou, N., Hehr, A., Schell-Apacik, C., Altus, C., Daumer-Haas, C., Meiner, A., Steuernagel, P., Roessler, E., Winkler J., Muenke, M. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the holoprosencephaly spectrum. Hum. Genet, 127:555-561. 2010. [PubMed]
 
Keaton, AA., Solomon, B.D., Kauvar, E.F., El-Jaick, K.B., Gropman, A.L., Zafer, Y., Meck, J.M., Bale, S.J., Grange, D.K., Haddad, B.R., Gowans, G.C., Clegg, N.J., Delgado, M.R., Hahn, J.S., Pineda-Alvarez, D.E., Lacbawan, F., Vélez, J.I., Roessler, E., Muenke, M.: TGIF mutations in human holoprosencephaly: correlation between genotype and phenotype. Mol. Syndromol, 1:211-222. 2010. [PubMed]
 
Bae, GU., Domené, S., Roessler, E., Schachter, K., Kang, J.-S., Muenke, M., Krauss, RS. Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am. J. Hum. Genet, 89:231-240. 2011. [PubMed]
 
Jain, M., Vélez, J.I., Acosta, M.T., Balog, J., Roessler, E., Palacio L.G., Pineda, D., Londoño, A.C., Palacio, J.D., Arbelaez, A., Lopera, F., Elia, J., Hakonarson, H., Seitz, C., Freitag, C.M., Palmason H., Meyer, J., Romanos, M., Walitza S., Hemminger, U., Warnke, A., Romanos, J., Renner, T., Jacob, C., Lesch, K.-P., Swanson, J., Castellanos, F.X., Bailey-Wilson, J., Arcos-Burgos, M., Muenke, M.: A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Mol. Psychiatr, 17:741-747. 2012. [PubMed]
 
Agochukwu, N.B., Solomon, B.D., Doherty, E.S., Muenke, M.: The palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).  J. Craniofac. Surg, 23:664-668. 2012. [PubMed]
 
Roessler, E., Vélez J.I., Zhou, N., Muenke, M. Utilizing prospective sequence analysis of SHH, ZIC2, SIX3, and TGIF in holoprosencephaly probands to describe gene x gene interaction. Mol. Genet. Metab, 105:658-664. 2012. [PubMed]
 
Roessler, E., Hu, P., Hong, S.-K., Srivastava, K., Carrington, B., Sood, R., Petrykowska, H., Elnitski, L., Ribeiro, L.A., Richieri-Costa, A., Feldman, B., Odenwald, W.F., 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]
 
Solomon, B.D., Bear, K.A., Wyllie, A., Keaton, A.A., Dubourg, C., David, V., Mercier, S., Odent, S., Hehr, U., Paulussen, A., Clegg, N.J., Delgado, M.R., Bale, S.J., Lacbawan, F., Ardinger, H., Aylsworth, A., Bhengu, M.L., Braddock, S., Braddoch, S., Brookhyser, K., Burton, B., Gaspar, H., Grix, A., Horovitz, D., Kanetzke, D., Kayserili, H., Lev, D., Nikkel, S.M., Norton, M., Roberts, R., Saal, H., Schaefer, G.B., Schneider, A., Smith E.K., Sowry, E., Spence, M.A., Shalev, S., Steiner, C.E., Balog, J.Z., Hadley, D.W., Zhou, N., Pineda-Alvarez, D.E., Roessler, E., Muenke, M. Genotypic and phenotypic analysis of 396 individuals with mutations in  Sonic Hedgehog. J. Med. Genet, 49:473-479. 2012. [PubMed]
 
Arcos-Burgos, M., Londono, A.C., Pineda, D.A., Lopera, F., Palacio, J,D., Arbelaez, A., Acosta, M.T., Vélez, J.I., Castellanos, F.X., Muenke, M. Analysis of brain metabolism by proton-magnetic-resonance-spectroscopy (1H-MRS) in attention-deficit / hyperactivity disorder suggests a generalized differential ontogenic pattern from controls. Atten. Defic. Hyperact. Disord, 4:205-212. 2012. [PubMed]
 
Agochukwu, N.B., Solomon, B.D., Muenke, M. Epilepsy in Muenke syndrome (FGFR3 related craniosynostosis). Pediatr. Neurol, 47:355-361. 2012. [PubMed]

Agochukwu, N.B., Solomon, B.D., Benson, L.J., Muenke, M. Talocalcaneal coalition in Muenke syndrome: report of a case, review of the literature in FGFR-related craniosynostosis, and consideration of mechanism. Am.J. Med. Genet, 161:453-460. 2013. [PubMed]
 
Bear, K.A., Solomon, B.D., Antonini, S., Arnold, I.J.P., França, M.M., Gerkes, E.H., Grange, D.K., Hadley, D.K., Jääskeläinen, J., Paulo, S.S., Rump, P., Stratakis, C.A., Thompson, E.M., Willis, M., Winder, T., Jorge, A.A.L., Roessler, E., Muenke, M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J. Med. Genet. [In Press] 
Book Chapters
Muenke, M., Solomon, B.D., Odent, S. (eds): Holoprosencephaly. Am. J. Med. Genet. Part C: Semin. Med. Genet, Vol. 154C, 2010.
 
Muenke, M., Kress, W., Collmann. H., Solomon, B.D. (eds.): Monographs in Human Genetics. Volume 19: Craniosynostoses: Molecular Genetics, Principles of Diagnosis and Treatment. Karger Publishing, Basel, Switzerland, Vol. 19:1-244. 2011.
 
Muenke, M., Volkow, N.D. (eds.): Genetics of Substance Use Disorders and Addiction. Hum. Genet, Vol. 131. 2012.
Reviews
Solomon, B.D., Gropman, A.S., Muenke, M.: Holoprosencephaly Overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews tm [Internet].  Seattle (WA):  University of Washington, Seattle. 2010. [PubMed]
 
Roessler, E., Muenke, M.: The molecular genetics of holoprosencephaly. Am. J. Med. Genet. Part C: Semin. Med. Genet, 154C:52-61. 2010. [PubMed]
 
Gropman, A.S., Muenke, M.: Holoprosencephaly. Chapter 30 in: Cassidy, S.B., Allanson, J.E. (eds.) "Management of Genetic Syndromes". Third Edition. Wiley-Blackwell, Inc. pp.441-459. 2010. [PubMed]
 
Arcos-Burgos, M., Muenke, M. Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD. Attention Deficit Hyperactivity Disorders, 2:139-147. 2010. [PubMed]
 
Kauvar, E.F., Muenke, M. Holoprosencephaly: recommendations for diagnosis and management. Curr. Opin. Pediatr, 22:687-695. 2010. [PubMed]
 
Agochukwu, N., Doherty, E.S., Muenke, M. Muenke syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviewstm (Internet) Seattle, Wash. University of Washington, Seattle. 2010. [PubMed]
 
Solomon, B.D., Muenke, M.: Muenke syndrome. Chapter 8 in: Muenke, M., Kress, W., Collman, H., Solomon, B.D. (eds.): Monographs in Human Genetics: Craniosynostoses: Molecular Genetics, Principles of Diagnosis and Treatment, 19:89-97. 2011.
 
Arcos-Burgos, M., Vélez, J.I, Solomon, B.D., Muenke, M.: A common genetic network underlies disruptive or externalizing disorders (ADHD, CD, ODD) and substance use disorders. Hum. Genet, 131:917-930. 2012. [PubMed]
 
Nah, H.-D., Koyama, E., Agochukwu, N.B., Bartlett, S.P., Muenke, M. Phenotype profile of a genetic mouse model for Muenke syndrome. Childs. Nerv. Syst, 28:1483-1493. 2012. [PubMed]
 
Volkow, N.D., Muenke, M.: The genetics of addiction. Hum. Genet, 131:773-777. 2012. [PubMed]
 
Muenke, M.: Individualized genomics and the future of translational medicine. Mol. Genet. & Genomic Med, 1:1-3. 2013. [PubMed

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Last Updated: March 27, 2014