X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules
Kunde, S.A., Musante, L., Grimme, A., Fischer, U., Müller, E., Wanker, E.E., Kalscheuer, V.M.
Published in Human molecular genetics (15.12.2011)
Published in Human molecular genetics (15.12.2011)
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Published in Molecular psychiatry (01.02.2018)
Published in Molecular psychiatry (01.02.2018)
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New insights into Brunner syndrome and potential for targeted therapy
Palmer, E.E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., Cheung, N.W., Champion, B., Hu, H., Haas, S.A., Kalscheuer, V.M., Gecz, J., Field, M.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders
Charzewska, A., Maiwald, R., Kahrizi, K., Oehl‐Jaschkowitz, B., Dufke, A., Lemke, J.R., Enders, H., Najmabadi, H., Tzschach, A., Hachmann, W., Jensen, C., Bienek, M., Poznański, J., Nawara, M., Chilarska, T., Obersztyn, E., Hoffman‐Zacharska, D., Gos, M., Bal, J., Kalscheuer, V.M.
Published in Clinical genetics (01.11.2018)
Published in Clinical genetics (01.11.2018)
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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S-i, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M, Okazawa, H
Published in Molecular psychiatry (01.04.2015)
Published in Molecular psychiatry (01.04.2015)
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H-H, Fryns, J-P, Janssen, I M, Sistermans, E A, Nillesen, W N, de Vries, L B A, Hamel, B C J, van Bokhoven, H
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
Jolly, Lachlan A, Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M, Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, Gecz, Jozef
Published in Human molecular genetics (15.06.2015)
Published in Human molecular genetics (15.06.2015)
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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
BLAGITKO, N, MERGENTHALER, S, SCHULZ, U, WOLLMANN, H. A, CRAIGEN, W, EGGERMANN, T, ROPERS, H.-H, KALSCHEUER, V. M
Published in Human molecular genetics (01.07.2000)
Published in Human molecular genetics (01.07.2000)
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Breakpoints around the HOXD cluster result in various limb malformations
Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, M, Mundlos, S, Tümer, Z, Kjaer, K, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
Tagariello, A, Heller, R, Greven, A, Kalscheuer, V M, Molter, T, Rauch, A, Kress, W, Winterpacht, A
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
Erdogan, F., Chen, W., Kirchhoff, M., Kalscheuer, V.M., Hultschig, C., Müller, I., Schulz, R., Menzel, C., Bryndorf, T., Ropers, H.-H., Ullmann, R.
Published in Cytogenetic and genome research (01.11.2006)
Published in Cytogenetic and genome research (01.11.2006)
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A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
Borg, I, Squire, M, Menzel, C, Stout, K, Morgan, D, Willatt, L, O'Brien, P C M, Ferguson-Smith, M A, Ropers, H H, Tommerup, N, Kalscheuer, V M, Sargan, D R
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations
Höckner, M., Spreiz, A., Frühmesser, A., Tzschach, A., Dufke, A., Rittinger, O., Kalscheuer, V., Singer, S., Erdel, M., Fauth, C., Grossmann, V., Utermann, G., Zschocke, J., Kotzot, D.
Published in Cytogenetic and genome research (01.06.2012)
Published in Cytogenetic and genome research (01.06.2012)
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef
Published in American journal of human genetics (01.06.2003)
Published in American journal of human genetics (01.06.2003)
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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome
Córdova-Fletes, C, Rademacher, N, Müller, I, Mundo-Ayala, JN, Morales-Jeanhs, EA, García-Ortiz, JE, León-Gil, A, Rivera, H, Domínguez, MG, Kalscheuer, VM
Published in Clinical genetics (01.01.2010)
Published in Clinical genetics (01.01.2010)
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A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females
Dreha-Kulaczewski, S., Kalscheuer, V., Tzschach, A., Hu, H., Helms, G., Brockmann, K., Weddige, A., Dechent, P., Schlüter, G., Krätzner, R., Ropers, H.-H., Gärtner, J., Zirn, B.
Published in JIMD Reports - Case and Research Reports, Volume 13 (01.01.2014)
Published in JIMD Reports - Case and Research Reports, Volume 13 (01.01.2014)
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Book Chapter
Journal Article
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
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