A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
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-Quiroga, J A, Hervas, A, Maher, B S, Faraone, S V, 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, Vortmeyer, A, Bailey-Wilson, J E, Castellanos, F X, Muenke, M
Published in Molecular psychiatry (01.11.2010)
Published in Molecular psychiatry (01.11.2010)
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Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay
Orenstein, N., Weiss, K., Oprescu, S.N., Shapira, R., Kidron, D., Vanagaite‐Basel, L., Antonellis, A., Muenke, M.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate
Mastronardi, C A, Pillai, E, Pineda, D A, Martinez, A F, Lopera, F, Velez, J I, Palacio, J D, Patel, H, Easteal, S, Acosta, M T, Castellanos, F X, Muenke, M, Arcos-Burgos, M
Published in Molecular psychiatry (01.10.2016)
Published in Molecular psychiatry (01.10.2016)
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Genetics of ventral forebrain development and holoprosencephaly
Muenke, Maximilian, Beachy, Philip A
Published in Current Opinion in Genetics & Development (01.06.2000)
Published in Current Opinion in Genetics & Development (01.06.2000)
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Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study
Ribasés, M., Ramos‐Quiroga, J. A., Sánchez‐Mora, C., Bosch, R., Richarte, V., Palomar, G., Gastaminza, X., Bielsa, A., Arcos‐Burgos, M., Muenke, M., Castellanos, F. X., Cormand, B., Bayés, M., Casas, M.
Published in Genes, brain and behavior (01.03.2011)
Published in Genes, brain and behavior (01.03.2011)
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A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
Paththinige, C S, Sirisena, N D, Kariyawasam, U G I U, Ediriweera, R C, Kruszka, P, Muenke, M, Dissanayake, V H W
Published in BMC medical genomics (08.05.2018)
Published in BMC medical genomics (08.05.2018)
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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans
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.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Variable gene expression in turner syndrome patients with bicuspid aortic valve
Banks, N.K, Kruszka, P.S, Cheng, C, Elkahloun, A, Bondy, C.A, Muenke, M
Published in Fertility and sterility (01.09.2014)
Published in Fertility and sterility (01.09.2014)
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Parental X chromosome inheritance and variable gene expression in turner syndrome
Banks, N.K, Kruszka, P.S, Cheng, C, Elkahloun, A, Bondy, C.A, Muenke, M
Published in Fertility and sterility (01.09.2014)
Published in Fertility and sterility (01.09.2014)
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Whole exome sequencing in monozygotic twins discordant for premature ovarian insufficiency
Banks, N, Martinez, A, Brown, L, Hughes, J, DeCherney, A, Page, D, Silber, S.J, Muenke, M
Published in Fertility and sterility (01.09.2015)
Published in Fertility and sterility (01.09.2015)
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A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD
Jain, M, Vélez, J I, Acosta, M T, Palacio, L G, Balog, J, Roessler, E, 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 E, Arcos-Burgos, M, Muenke, M
Published in Molecular psychiatry (01.07.2012)
Published in Molecular psychiatry (01.07.2012)
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Holoprosencephaly: A paradigm for the complex genetics of brain development
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Conference Proceeding
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Phenotypic diversity amongst patients with an isodicentric y chromosome
Banks, N.K, Brown, L, Hughes, J, Solomon, B, Muenke, M, Page, D.C
Published in Fertility and sterility (01.09.2013)
Published in Fertility and sterility (01.09.2013)
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A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome
Acosta, M T, Vélez, J I, Bustamante, M L, Balog, J Z, Arcos-Burgos, M, Muenke, M
Published in Translational psychiatry (05.07.2011)
Published in Translational psychiatry (05.07.2011)
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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans
Arauz, R.F., Solomon, B.D., Pineda-Alvarez, D.E., Gropman, A.L., Parsons, J.A., Roessler, E., Muenke, M.
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
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The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly
Nanni, Luisa, Ming, Jeffrey E., Bocian, Maureen, Steinhaus, Kathryn, Bianchi, Diana W., de Die-Smulders, Christine, Giannotti, Aldo, Imaizumi, Kiyoshi, Jones, Kenneth L., Del Campo, Miguel, Martin, Rick A., Meinecke, Peter, Pierpont, Mary Ella M., Robin, Nathaniel H., Young, Ian D., Roessler, Erich, Muenke, Maximilian
Published in Human molecular genetics (01.12.1999)
Published in Human molecular genetics (01.12.1999)
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