X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes von 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

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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 von Kunde, S.A., Musante, L., Grimme, A., Fischer, U., Müller, E., Wanker, E.E., Kalscheuer, V.M.

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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 von 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

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders von 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.

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New insights into Brunner syndrome and potential for targeted therapy von 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.

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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells von 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

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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain von 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

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation von 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

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation von 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

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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion von BLAGITKO, N, MERGENTHALER, S, SCHULZ, U, WOLLMANN, H. A, CRAIGEN, W, EGGERMANN, T, ROPERS, H.-H, KALSCHEUER, V. M

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Breakpoints around the HOXD cluster result in various limb malformations von 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

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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation von Erdogan, F., Chen, W., Kirchhoff, M., Kalscheuer, V.M., Hultschig, C., Müller, I., Schulz, R., Menzel, C., Bryndorf, T., Ropers, H.-H., Ullmann, R.

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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region von Tagariello, A, Heller, R, Greven, A, Kalscheuer, V M, Molter, T, Rauch, A, Kress, W, Winterpacht, A

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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 von 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

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Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients von Tümer, Z., Harboe, T.L., Blennow, E., Kalscheuer, V.M., Tommerup, N., Brøndum-Nielsen, K.

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Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly von SHOICHET, Sarah A, KUNDE, Stella-Amrei, VIERTEL, Petra, SCHELL-APACIK, Can, VON VOSS, Hubertus, TOMMERUP, Niels, ROPERS, Hans-Hilger, KALSCHEUER, Vera M

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Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation von Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, Kalscheuer, Vera M.

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Genomic Organization and Expression of the Doublesex-Related Gene Cluster in Vertebrates and Detection of Putative Regulatory Regions for DMRT1 von Brunner, Bodo, Hornung, Ute, Shan, Zihong, Nanda, Indrajit, Kondo, Mariko, Zend-Ajusch, Enchshargal, Haaf, Thomas, Ropers, Hans-Hilger, Shima, Akihiro, Schmid, Michael, Kalscheuer, Vera M., Schartl, Manfred

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations von 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.

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Biallelic Expression of the H19 and IGF2 Genes in Human Testicular Germ Cell Tumors von van Gurp, Ruud J. H. L. M., Oosterhuis, J. Wolter, Kalscheuer, Vera, Mariman, Edwin C. M., Looijenga, Leenderi H. J.

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