Max Planck Institute for Molecular Genetics

Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Publications by the Kalscheuer Lab

Published

2025

Damiani, F.; Giuliano, M. G.; Cornuti, S.; Putignano, E.; Tognozzi, A.; Suckow, V.; Kalscheuer, V. M.; Pizzorusso, T.; Tognini, P.: Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes. Cell Reports 44 (4), Article 115546 (2025)

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2023

Courraud, J.; Engel, C.; Quartier, A.; Drouot, N.; Houessou, U.; Plassard, D.; Sorlin, A.; Brischoux-Boucher, E.; Gouy, E.; Van Maldergem, L. et al.; Rossi, M.; Lesca, G.; Edery, P.; Putoux, A.; Bilan, F.; Gilbert-Dussardier, B.; Atallah, I.; Kalscheuer, V. M.; Mandel, J.-L.; Piton, A.: Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry 29 (2), pp. 287 - 296 (2023)

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Huang, X.; Henck, J.; Qiu, C.; Sreenivasan, V. K. A.; Balachandran, S.; Amarie, O. V.; de Angelis, M. H.; Behncke, R. Y.; Chan, W.-L.; Despang, A. et al.; Dickel, D. E.; Duran, M.; Feuchtinger, A.; Fuchs, H.; Gailus-Durner, V.; Haag, N.; Hägerling, R.; Hansmeier, N.; Hennig, F.; Marshall, C.; Rajderkar, S.; Ringel, A.; Robson, M. I.; Saunders, L. M.; da Silva-Buttkus, P.; Spielmann, N.; Srivatsan, S. R.; Ulferts, S.; Wittler, L.; Zhu, Y.; Kalscheuer, V. M.; Ibrahim, D. M.; Kurth, I.; Kornak, U.; Visel, A.; Pennacchio, L. A.; Beier, D. R.; Trapnell, C.; Cao, J.; Shendure, J.; Spielmann, M.: Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 623 (7988), pp. 772 - 781 (2023)

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Mensah, M. A.; Niskanen, H.; Magalhães, A. P.; Basu, S.; Kircher, M.; Sczakiel, H. L.; Reiter, A. M. V.; Elsner, J.; Meinecke, P.; Biskup, S. et al.; Chung, B. H. Y.; Dombrowsky, G.; Eckmann-Scholz, C.; Hitz, M. P.; Hoischen, A.; Holterhus, P.-M.; Hülsemann, W.; Kahrizi, K.; Kalscheuer, V. M.; Kan, A.; Krumbiegel, M.; Kurth, I.; Leubner, J.; Longardt, A. C.; Moritz, J. D.; Najmabadi, H.; Skipalova, K.; Snijders Blok, L.; Tzschach, A.; Wiedersberg, E.; Zenker, M.; Garcia-Cabau, C.; Buschow, R.; Salvatella, X.; Kraushar, M. L.; Mundlos, S.; Caliebe, A.; Spielmann, M.; Horn, D.; Hnisz, D.: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948), pp. 564 - 571 (2023)

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Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28 (2), pp. 668 - 697 (2023)

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2022

Meziane, H.; Birling, M.-C.; Wendling, O.; Leblanc, S.; Dubos, A.; Selloum , M.; Pavlovic, G.; Sorg, T.; Kalscheuer, V. M.; Billuart, P. et al.; Laumonnier, F.; Chelly, J.; van Bokhoven , H.; Herault, Y.: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12), 3148 (2022)

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Leitão, E.; Schröder, C.; Parenti, I.; Dalle, C.; Rastetter, A.; Kühnel, T.; Kuechler, A.; Kaya, S.; Gérard, B.; Schaefer, E. et al.; Nava, C.; Drouot, N.; Engel, C.; Piard, J.; Duban-Bedu1, B.; Villard, L.; Stegmann, A. P. A.; Vanhoutte, E. K.; Verdonschot, J. A. J.; Kaiser, F. J.; Mau-Them, F. T.; Scala, M.; Striano, P.; Frints, S. G. M.; Argilli, E.; Sherr, E. H.; Elder, F.; Buratti, J.; Keren, B.; Mignot, C.; Héron, D.; Mandel, J.-L.; Gecz, J.; Kalscheuer, V. M.; Horsthemke, B.; Piton, A.; Depienne, C.: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 13 (1), 6570 (2022)

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Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13 (1), 6470 (2022)

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2021

Beheshtian, M.; Akhtarkhavari, T.; Mehvari, S.; Mohseni, M.; Fattahi, Z.; Abedini, S. S.; Arzhangi , S.; Fadaee, M.; Jamali , P.; Najafipour, R. et al.; Kalscheuer, V. M.; Hu, H.; Ropers, H.-H.; Najmabadi, H.; Kahrizi, K.: Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 99 (1), pp. 187 - 192 (2021)

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Palmer, E. E.; Nguyen, M. H.; Forwood, C.; Kalscheuer, V. M.: CLCN4-Related Neurodevelopmental Disorder. GeneReviews (online database) (2021)

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2020

Kotzaeridou, U.; Young-Baird, S. K.; Suckow, V.; Thornburg, A. G.; Wagner, M.; Harting, I.; Christ, S.; Strom, T.; Dever, T. E.; Kalscheuer, V. M.: Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 98 (5), pp. 507 - 514 (2020)

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Grozdanov, P. N.; Masoumzadeh, E.; Kalscheuer, V. M.; Bienvenu, T.; Billuart, P.; Delrue, M.-A.; Latham, M. P.; MacDonald, C. C.: A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 48 (17), pp. 9804 - 9821 (2020)

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Mehvari, S.; Larti, F.; Hu, H.; Fattahi, Z.; Beheshtian, M.; Abedini, S. S.; Arzhangi, S.; Ropers, H.-H.; Kalscheuer, V. M.; Auld, D. et al.; Kahrizi, K.; Riazalhosseini, Y.; Najmabadi, H.: Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 8 (10), e1418 (2020)

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Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)

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2019

Frints, S. G. M.; Hennig, F.; Colombo, R.; Jacquemont, S.; Terhal, P.; Zimmerman, H. H.; Hunt, D.; Mendelsohn, B. A.; Kordaß, U.; Webster, R. et al.; Sinnema, M.; Abdul‐Rahman, O.; Suckow, V.; Fernández‐Jaén, A.; van Roozendaal, K.; Stevens, S. J. C.; Macville, M. V. E.; Al‐Nasiry, S.; van Gassen, K.; Utzig, N.; Koudijs, S. M.; McGregor, L.; Maas, S. M.; Baralle, D.; Dixit, A.; Wieacker, P.; Lee, M.; Lee, A. S.; Engle, E. C.; Houge, G.; Velasco, D.; Hennekam, R. C.; Hirata, H.; Kalscheuer, V. M.: Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 40 (12), pp. 2270 - 2285 (2019)

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Frints, S. G. M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; Hickey, S. E.; Kammoun, M.; Gripp, K. W. et al.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B. J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D. C.; van Roozendaal, K. E. P.; Hu, H.; Haas, S. A.; Ropers, H. H.; Murray, L.; Haan, E.; Shaw, M.; Carroll, R.; Friend, K.; Liebelt, J.; Hobson, L.; De Rademaeker, M.; Geraedts, J.; Fryns, J.-P.; Vermeesch, J.; Raynaud, M.; Riess, O.; Gribnau, J.; Katsanis, N.; Devriendt, K.; Bauer, P.; Gecz, J.; Golzio, C.; Gontan, C.; Kalscheuer, V. M.: Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 24 (11), pp. 1748 - 1768 (2019)

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Nazaryan-Petersen, L.; Oliveira, I. R.; Mehrjouy, M. M.; Mendez, J. M. M.; Bak, M.; Bugge, M.; Kalscheuer, V. M.; Bache, I.; Hancks, D. C.; Tommerup, N.: Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation 40 (8), pp. 1057 - 1062 (2019)

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Gudmundsson, S.; Wilbe, M.; Filipek-Górniok, B.; Molin, A.-M.; Ekvall, S.; Johansson, J.; Allalou, A.; Gylje, H.; Kalscheuer, V. M.; Ledin, J. et al.; Annerén, G.; Bondeson, M.-L.: TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 9 (1), Article 10730 (2019)

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Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M.; Oppitz, C.; Abedini, S. S.; Suckow, V.; Farzaneh, L. et al.; Beheshtian, M.; Lipkowitz, B.; Akhtarkhavari, T.; Mehvari, S.; Otto, S.; Mohseni, M.; Arzhangi, S.; Jamali, P.; Mojahedi, F.; Taghdiri, M.; Papari, E.; Soltani Banavandi, M. J.; Akbari, S.; Tonekaboni, S. H.; Dehghani, H.; Ebrahimpou, M. R.; Bader, I.; Davarnia, B.; Cohen, M.; Khodaei, H.; Albrecht, B.; Azimi, S.; Zirn, B.; Bastami, M.; Wieczorek, D.; Bahrami, G.; Keleman, K.; Vahid, L. N.; Timmermann, B.; Pourfatemi, F.; Jankhah, A.; Chen, W.; Nikuei, P.; Kalscheuer, V. M.; Oladnabi, M.; Wienker, T. F.; Ropers, H.-H.; Najmabadi, H.: Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7), pp. 1027 - 1039 (2019)

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Beheshtian, M.; Fattahi, Z.; Fadaee, M.; Vazehan, R.; Jamali, P.; Parsimehr, E.; Kamgar, M.; Zonooz, M. F.; Mahdavi, S. S.; Kalhor, Z. et al.; Arzhangi, S.; Abedini, S. S.; Kermani , F. S.; Mojahedi, F.; Kalscheuer, V. M.; Ropers, H.-H.; Kariminejad , A.; Najmabadi, H.; Kahrizi, K.: Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics: an international journal of genetics in medicine 95 (6), pp. 641 - 739 (2019)

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Chiou, T. T.; Long, P.; Schumann-Gillett, A.; Kanamarlapudi, V.; Haas, S. A.; Harvey, K.; O'Mara, M. L.; De Blas, A. L.; Kalscheuer, V. M.; Harvey, R. J.: Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 12, Article 60 (2019)

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Khayat, W.; Hackett , A.; Shaw, M.; Ilie , A.; Dudding-Byth , T.; Kalscheuer, V. M.; Christie , L.; Corbett , M. A.; Juusola , J.; Friend, K. L. et al.; Kirmse , B. M.; Gecz , J.; Field, M.; Orlowski, J.: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 28 (4), pp. 598 - 614 (2019)

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Hosseini, M.; Fattahi, Z.; Abedini, S. S.; Hu, H.; Ropers, H. H.; Kalscheuer, V. M.; Najmabadi, H.; Kahrizi, K.: GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), pp. 13 - 19 (2019)

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Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), pp. 151 - 159 (2019)

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2018

Basilicata, M. F.; Bruel, A.-L.; Semplicio, G.; Keller Valsecchi, C. I.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W. G. et al.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M. T.; Pfundt, R.; Tan, T. Y.; Kirchhoff, M.; Menten, B.; Vergult, S.; Lindstrom, K.; Reis, A.; Johnson, D. S.; Fryer, A.; McKay, V.; Study, D. D. D.; Fisher, R. B.; Thauvin-Robinet, C.; Francis, D.; Roscioli, T.; Pajusalu, S.; Radtke, K.; Ganesh, J.; Brunner, H. G.; Wilson, M.; Faivre, L.; Kalscheuer, V. M.; Thevenon, J.; Akhtar, A.: De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50 (10), pp. 1442 - 1451 (2018)

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Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl‐Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W. et al.; Jensen, C.; Bienek, M.; Poznański, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman‐Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M.: The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 2018, 13412 (2018)

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Selvan, N.; George, S.; Serajee, F. J.; Shaw, M.; Hobson, L.; Kalscheuer, V.; Nripesh, P.; Levy, S. E.; Taylor, J.; Aftimos, S. et al.; Schwartz, C. E.; Huq, A. M.; Gecz, J.; Wells, L.: O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 293 (27), pp. 10810 - 10824 (2018)

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Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E. C.; Bhoj, E. J.; Bonneau, D. et al.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, C.; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L. J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, C.; Francannet, C.; Genevieve, D.; Giurgea, I.; Goldenberg, A.; Green, A. K.; Guerrot, A. M.; Heron, D.; Isidor, B.; Keena, B. A.; Krock, B. L.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y. A.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V. M.; Gerard, B.; Ghoumid, J.: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, pp. 1 - 11 (2018)

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Ho, B.; Greenlaw, K.; Al Tuwaijri, A.; Moussette, S.; Martinez, F.; Giorgio, E.; Brusco, A.; Ferrero, G. B.; Linhares, N. D.; Valadares, E. R. et al.; Svartman, M.; Kalscheuer, V. M.; Rodriguez Criado, G.; Laprise, C.; Greenwood, C. M. T.; Naumova, A. K.: X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 9 (1), 9:10 (2018)

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Piard, J.; Hu, J. H.; Campeau, P. M.; Rzonca, S.; Van Esch, H.; Vincent, E.; Han, M.; Rossignol, E.; Castaneda, J.; Chelly, J. et al.; Skinner, C.; Kalscheuer, V. M.; Wang, R.; Lemyre, E.; Kosinska, J.; Stawinski, P.; Bal, J.; Hoffman, D. A.; Schwartz, C. E.; Van Maldergem, L.; Wang, T.; Worley, P. F.: FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 27 (4), pp. 589 - 600 (2018)

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Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C. et al.; 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.; Study, D. D. D.; Cobben, J. M.; Duijkers, F. A. M.; Goehringer, M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, A.; Stankiewicz, P.; Jentsch, T. H.; Gecz, J.; Field, M.; Kalscheuer, V. M.: 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. Molecular Psychiatry 23 (2), pp. 222 - 230 (2018)

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2017

Hector, R. D.; Kalscheuer, V. M.; Hennig, F.; Leonard, H.; Downs, J.; Clarke, A.; Benke, T. A.; Armstrong, J.; Pineda, M.; Bailey, M. E. S. et al.; Cobb, S. R.: CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics 3 (6), e200 (2017)

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Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), pp. 833 - 843 (2017)

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Niturad, C. E.; Lev, D.; Kalscheuer, V. M.; Charzewska, A.; Schubert, J.; Lerman-Sagie, T.; Kroes, H. Y.; Oegema, R.; Traverso, M.; Specchio, N. et al.; Lassota, M.; Chelly, J.; Bennett-Back, O.; Carmi, N.; Koffler-Brill, T.; Iacomino, M.; Trivisano, M.; Capovilla, G.; Striano, P.; Nawara, M.; Rzonca, S.; Fischer, U.; Bienek, M.; Jensen, C.; Hu, H.; Thiele, H.; Altmüller, J.; Krause, R.; May, P.; Becker, F.; Euro, E. C.; Balling, R.; Biskup, S.; Haas, S. A.; Nürnberg, P.; van Gassen, K. L. I.; Lerche, H.; Zara, F.; Maljevic, S.; Leshinsky-Silver, E.: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 140 (11), pp. 2879 - 2894 (2017)

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Carroll, R.; Kumar, R.; Shaw, M.; Slee, J.; Kalscheuer, V.; Corbett, M. A.; Gecz, J.: Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 25 (9), pp. 1078 - 1082 (2017)

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Alber, M.; Kalscheuer, V. M.; Marco, E.; Sherr, E.; Lesca, G.; Till, M.; Gradek, G.; Wiesener, A.; Korenke, C.; Mercier, S. et al.; Becker, F.; Yamamoto, T.; Scherer, S. W.; Marshall, C. R.; Walker, S.; Dutta, U. R.; Dalal, A. B.; Suckow, V.; Jamali, P.; Kahrizi, K.; Najmabadi, H.; Minassian, B. A.: ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 3 (3), e148 (2017)

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Skopkova, M.; Hennig, F.; Shin, B. S.; Turner, C. E.; Stanikova, D.; Brennerova, K.; Stanik, J.; Fischer, U.; Henden, L.; Müller, U. et al.; Steinberger, D.; Leshinsky-Silver, E.; Bottani, A.; Kurdiova, T.; Ukropec, J.; Nyitrayova, O.; Kolnikova, M.; Klimes, I.; Borck, G.; Bahlo, M.; Haas, S. A.; Kim, J. R.; Lotspeich-Cole, L. E.; Gasperikova, D.; Dever, T. E.; Kalscheuer, V. M.: EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 38 (4), pp. 409 - 425 (2017)

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van der Werf, I. M.; Van Dijck, A.; Reyniers, E.; Helsmoortel, C.; Kumar, A. A.; Kalscheuer, V. M.; de Brouwer, A. P.; Kleefstra, T.; van Bokhoven, H.; Mortier, G. et al.; Janssens, S.; Vandeweyer, G.; Kooy, R. F.: Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 605, pp. 92 - 98 (2017)

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Zapata, J.; Moretto, E.; Hannan, S.; Murru, L.; Longatti, A.; Mazza, D.; Benedetti, L.; Fossati, M.; Heise, C.; Ponzoni, L. et al.; Valnegri, P.; Braida, D.; Sala, M.; Francolini, M.; Hildebrand, J.; Kalscheuer, V.; Fanelli, F.; Sala, C.; Bettler, B.; Bassani, S.; Smart, T. G.; Passafaro, M.: Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nature Communications 8, 8:14536 (2017)

MPG.PuRe

publisher-version

2016

Kalscheuer, V. M.; James, V. M.; Himelright, M. L.; Long, P.; Oegema, R.; Jensen, C.; Bienek, M.; Hu, H.; Haas, S. A.; Topf, M. et al.; Hoogeboom, A. J.; Harvey, K.; Walikonis, R.; Harvey, R. J.: Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 8, 8:85 (2016)

MPG.PuRe

publisher-version

Palmer, E. E.; Leffler, M.; Rogers, C.; Shaw, M.; Carroll, R.; Earl, J.; Cheung, N. W.; Champion, B.; Hu, H.; Haas, S. A. et al.; Kalscheuer, V. M.; Gecz, J.; Field, M.: New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 89 (1), pp. 120 - 127 (2016)

MPG.PuRe

publisher-version

Williams, L. S.; Kim, H. G.; Kalscheuer, V. M.; Tuck, J. M.; Chorich, L. P.; Sullivan, M. E.; Falkenstrom, A.; Reindollar, R. H.; Layman, L. C.: A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. Molecular Cytogenetics 9, 9:57 (2016)

MPG.PuRe

publisher-version

Hackmann, K.; Rump, A.; Haas, S. A.; Lemke, J. R.; Fryns, J. P.; Tzschach, A.; Wieczorek, D.; Albrecht, B.; Kuechler, A.; Ripperger, T. et al.; Kobelt, A.; Oexle, K.; Tinschert, S.; Schrock, E.; Kalscheuer, V. M.; Di Donato, N.: Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A 170 (1), pp. 94 - 102 (2016)

MPG.PuRe

publisher-version

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. et al.; 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.: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), pp. 133 - 148 (2016)

MPG.PuRe

publisher-version

2015

O'Rawe, J. A.; Wu, Y.; Dorfel, M. J.; Rope, A. F.; Au, P. Y.; Parboosingh, J. S.; Moon, S.; Kousi, M.; Kosma, K.; Smith, C. S. et al.; Tzetis, M.; Schuette, J. L.; Hufnagel, R. B.; Prada, C. E.; Martinez, F.; Orellana, C.; Crain, J.; Caro-Llopis, A.; Oltra, S.; Monfort, S.; Jimenez-Barron, L. T.; Swensen, J.; Ellingwood, S.; Smith, R.; Fang, H.; Ospina, S.; Stegmann, S.; Den Hollander, N.; Mittelman, D.; Highnam, G.; Robison, R.; Yang, E.; Faivre, L.; Roubertie, A.; Riviere, J. B.; Monaghan, K. G.; Wang, K.; Davis, E. E.; Katsanis, N.; Kalscheuer, V. M.; Wang, E. H.; Metcalfe, K.; Kleefstra, T.; Innes, A. M.; Kitsiou-Tzeli, S.; Rosello, M.; Keegan, C. E.; Lyon, G. J.: TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 97 (6), pp. 922 - 932 (2015)

MPG.PuRe

publisher-version

Guy, M. P.; Shaw, M.; Weiner, C. L.; Hobson, L.; Stark, Z.; Rose, K.; Kalscheuer, V. M.; Gecz, J.; Phizicky, E. M.: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36 (12), pp. 1176 - 1187 (2015)

MPG.PuRe

publisher-version

Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)

MPG.PuRe

publisher-version

Kumar, R.; Corbett, M. A.; Van Bon, B. W.; Gardner, A.; Woenig, J. A.; Jolly, L. A.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H. et al.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bielenska, A.; Batanian, J.; Rosenfeld, J. A.; Basel-Vanagaite, L.; Jensen, C.; Bienek, M.; Froyen, G.; Ullmann, R.; Hu, H.; Love, M. I.; Haas, S. A.; Stankiewicz, P.; Cheung, S. W.; Baxendale, A.; Nicholl, J.; Thompson, E. M.; Haan, E.; Kalscheuer, V. M.; Gecz, J.: Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 24 (25), pp. 7171 - 7181 (2015)

MPG.PuRe

publisher-version

Zanni, G.; Kalscheuer, V. M.; Friedrich, A.; Barresi, S.; Alfieri, P.; Di Capua, M.; Haas, S. A.; Piccini, G.; Karl, T.; Klauck, S. M. et al.; Bellacchio, E.; Emma, F.; Cappa, M.; Bertini, E.; Breitenbach-Koller, L.: A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 36 (12), pp. 1155 - 1158 (2015)

MPG.PuRe

publisher-version

Kumar, R.; Corbett, M. A.; van Bon, B. W.; Woenig, J. A.; Weir, L.; Douglas, E.; Friend, K. L.; Gardner, A.; Shaw, M.; Jolly, L. A. et al.; Tan, C.; Hunter, M. F.; Hackett, A.; Field, M.; Palmer, E. E.; Leffler, M.; Rogers, C.; Boyle, J.; Bienek, M.; Jensen, C.; Van Buggenhout, G.; Van Esch, H.; Hoffmann, K.; Raynaud, M.; Zhao, H.; Reed, R.; Hu, H.; Haas, S. A.; Haan, E.; Kalscheuer, V. M.; Gecz, J.: THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 97 (2), pp. 302 - 310 (2015)

MPG.PuRe

publisher-version

Snijders Blok, L.; Madsen, E.; Juusola, J.; Gilissen, C.; Baralle, D.; Reijnders, M. R.; Venselaar, H.; Helsmoortel, C.; Cho, M. T.; Hoischen, A. et al.; Vissers, L. E.; Koemans, T. S.; Wissink-Lindhout, W.; Eichler, E. E.; Romano, C.; Van Esch, H.; Stumpel, C.; Vreeburg, M.; Smeets, E.; Oberndorff, K.; van Bon, B. W.; Shaw, M.; Gecz, J.; Haan, E.; Bienek, M.; Jensen, C.; Loeys, B. L.; Van Dijck, A.; Innes, A. M.; Racher, H.; Vermeer, S.; Di Donato, N.; Rump, A.; Tatton-Brown, K.; Parker, M. J.; Henderson, A.; Lynch, S. A.; Fryer, A.; Ross, A.; Vasudevan, P.; Kini, U.; Newbury-Ecob, R.; Chandler, K.; Male, A.; Study, D. D. D.; Dijkstra, S.; Schieving, J.; Giltay, J.; van Gassen, K. L.; Schuurs-Hoeijmakers, J.; Tan, P. L.; Pediaditakis, I.; Haas, S. A.; Retterer, K.; Reed, P.; Monaghan, K. G.; Haverfield, E.; Natowicz, M.; Myers, A.; Kruer, M. C.; Stein, Q.; Strauss, K. A.; Brigatti, K. W.; Keating, K.; Burton, B. K.; Kim, K. H.; Charrow, J.; Norman, J.; Foster-Barber, A.; Kline, A. D.; Kimball, A.; Zackai, E.; Harr, M.; Fox, J.; McLaughlin, J.; Lindstrom, K.; Haude, K. M.; van Roozendaal, K.; Brunner, H.; Chung, W. K.; Kooy, R. F.; Pfundt, R.; Kalscheuer, V. M.; Mehta, S. G.; Katsanis, N.; Kleefstra, T.: Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 97 (2), pp. 343 - 352 (2015)

MPG.PuRe

publisher-version

Shehata, S. N.; Deak, M.; Morrice, N. A.; Ohta, E.; Hunter, R. W.; Kalscheuer, V. M.; Sakamoto, K.: Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal 469 (3), pp. 409 - 420 (2015)

MPG.PuRe

publisher-version

Jolly, L. A.; Nguyen, L. S.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V. M. et al.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.: HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics 24 (12), pp. 3335 - 3347 (2015)

MPG.PuRe

publisher-version

Shaw, M.; Yap, T. Y.; Henden, L.; Bahlo, M.; Gardner, A.; Kalscheuer, V. M.; Haan, E.; Christie, L.; Hackett, A.; Gecz, J.: Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 58 (6-7), pp. 364 - 368 (2015)

MPG.PuRe

publisher-version

Ito, H.; Shiwaku, H.; Yoshida, C.; Homma, H.; Luo, H.; Chen, X.; Fujita, K.; Musante, L.; Fischer, U.; Frints, S. G. et al.; 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.: In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Molecular Psychiatry 20 (4), pp. 459 - 471 (2015)

MPG.PuRe

publisher-version

Vulto-van Silfhout, A. T.; Nakagawa, T.; Bahi-Buisson, N.; Haas, S. A.; Hu, H.; Bienek, M.; Vissers, L. E. L. M.; Gilissen, C.; Tzschach, A.; Busche, A. et al.; Müsebeck, J.; Rump, P.; Mathijssen, I. B.; Avela, K.; Somer, M.; Doagu, F.; Philips, A. K.; Rauch, A.; Baumer, A.; Voesenek, K.; Poirier, K.; Vigneron, J.; Amram, D.; Odent, S.; Nawara, M.; Obersztyn, E.; Lenart, J.; Charzewska, A.; Lebrun, N.; Fischer, U.; Nillesen, W. M.; Yntema, H. G.; Järvelä, I.; Ropers, H.-H.; de Vries, B. B. A.; Brunner, H. G.; van Bokhoven, H.; Raymond, F. L.; Willemsen, M. A. A. P.; Chelly, J.; Xiong, Y.; Barkovich, A. J.; Kalscheuer, V. M.; Kleefstra, T.; de Brouwer, A. P. M.: Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 36 (1), pp. 106 - 117 (2015)

MPG.PuRe

publisher-version

2014

Wilson, G. R.; Sim, J. C.; McLean, C.; Giannandrea, M.; Galea, C. A.; Riseley, J. R.; Stephenson, S. E.; Fitzpatrick, E.; Haas, S. A.; Pope, K. et al.; Hogan, K. J.; Gregg, R. G.; Bromhead, C. J.; Wargowski, D. S.; Lawrence, C. H.; James, P. A.; Churchyard, A.; Gao, Y.; Phelan, D. G.; Gillies, G.; Salce, N.; Stanford, L.; Marsh, A. P.; Mignogna, M. L.; Hayflick, S. J.; Leventer, R. J.; Delatycki, M. B.; Mellick, G. D.; Kalscheuer, V. M.; D'Adamo, P.; Bahlo, M.; Amor, D. J.; Lockhart, P. J.: Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 95 (6), pp. 729 - 735 (2014)

MPG.PuRe

publisher-version

Hu, H.; Wienker, T. F.; Musante, L.; Kalscheuer, V. M.; Kahrizi, K.; Najmabadi, H.; Ropers, H. H.: Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 35 (12), pp. 1427 - 1435 (2014)

MPG.PuRe

publisher-version

Minocherhomji, S.; Hansen, C.; Kim, H.-G.; Mang, Y.; Bak, M.; Guldberg, P.; Papadopoulos, N.; Eiberg, H.; Doh, G. D.; Møllgard, K. et al.; Hertz, J. M.; Nielsen, J. E.; Ropers, H.-H.; Tumer, Z.; Tommerup, N.; Kalscheuer, V. M.; Silahtaroglu, A.: Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 23 (23), pp. 6163 - 6176 (2014)

MPG.PuRe

publisher-version

Vaags, A. K.; Bowdin, S.; Smith, M. L.; Gilbert-Dussardier, B.; Brocke-Holmefjord, K. S.; Sinopoli, K.; Gilles, C.; Haaland, T. B.; Vincent-Delorme, C.; Lagrue, E. et al.; Harbuz, R.; Walker, S.; Marshall, C. R.; Houge, G.; Kalscheuer, V. M.; Scherer, S. W.; Minassian, B. A.: Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology 76 (5), pp. 758 - 764 (2014)

MPG.PuRe

publisher-version

Willemsen, M. H.; Ba, W.; Wissink-Lindhout, W. M.; de Brouwer, A. P.; Haas, S. A.; Bienek, M.; Hu, H.; Vissers, L. E.; van Bokhoven, H.; Kalscheuer, V. et al.; Nadif Kasri, N.; Kleefstra, T.: Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. Journal of Medical Genetics 51 (7), pp. 487 - 494 (2014)

MPG.PuRe

publisher-version

Vona, B.; Nanda, I.; Neuner, C.; Schroder, J.; Kalscheuer, V. M.; Shehata-Dieler, W.; Haaf, T.: Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature. BMC Medical Genetics 15, 15:72 (2014)

MPG.PuRe

publisher-version

Philips, A. K.; Siren, A.; Avela, K.; Somer, M.; Peippo, M.; Ahvenainen, M.; Doagu, F.; Arvio, M.; Kaariainen, H.; Van Esch, H. et al.; Froyen, G.; Haas, S. A.; Hu, H.; Kalscheuer, V. M.; Jarvela, I.: X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Diseases 9, 9:49 (2014)

MPG.PuRe

publisher-version

de Brouwer, A. P.; Nabuurs, S. B.; Verhaart, I. E.; Oudakker, A. R.; Hordijk, R.; Yntema, H. G.; Hordijk-Hos, J. M.; Voesenek, K.; de Vries, B. B.; van Essen, T. et al.; Chen, W.; Hu, H.; Chelly, J.; den Dunnen, J. T.; Kalscheuer, V. M.; Aartsma-Rus, A. M.; Hamel, B. C.; van Bokhoven, H.; Kleefstra, T.: A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 22 (4), pp. 480 - 485 (2014)

MPG.PuRe

publisher-version

Belet, S.; Fieremans, N.; Yuan, X.; Van Esch, H.; Verbeeck, J.; Ye, Z.; Cheng, L.; Brodsky, B. R.; Hu, H.; Kalscheuer, V. M. et al.; Brodsky, R. A.; Froyen, G.: Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation 35 (3), pp. 350 - 355 (2014)

MPG.PuRe

publisher-version

Masurel-Paulet, A.; Kalscheuer, V. M.; Lebrun, N.; Hu, H.; Levy, F.; Thauvin-Robinet, C.; Darmency-Stamboul, V.; El Chehadeh, S.; Thevenon, J.; Chancenotte, S. et al.; Ruffier-Bourdet, M.; Bonnet, M.; Pinoit, J. M.; Huet, F.; Desportes, V.; Chelly, J.; Faivre, L.: Expanding the clinical phenotype of patients with a ZDHHC9 mutation. American Journal of Medical Genetics Part A 164A (3), pp. 789 - 795 (2014)

MPG.PuRe

publisher-version

Arvio, M.; Philips, A. K.; Ahvenainen, M.; Somer, M.; Kalscheuer, V.; Järvelä, I.: [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim; lääketieteellinen aikakauskirja 130 (21), pp. 2202 - 2205 (2014)

MPG.PuRe

Dreha-Kulaczewski, S.; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.; Weddige, A.; Dechent, P.; Schluter, G.; Kratzner, R. et al.; Ropers, H. H.; Gartner, J.; Zirn, B.: 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. JIMD Reports 13, pp. 91 - 99 (2014)

MPG.PuRe

publisher-version

2013

Lesca, G.; Moizard, M. P.; Bussy, G.; Boggio, D.; Hu, H.; Haas, S. A.; Ropers, H. H.; Kalscheuer, V. M.; Des Portes, V.; Labalme, A. et al.; Sanlaville, D.; Edery, P.; Raynaud, M.; Lespinasse, J.: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 161A (12), pp. 3063 - 3071 (2013)

MPG.PuRe

publisher-version

Zhang, Z.; Norris, J.; Kalscheuer, V.; Wood, T.; Wang, L.; Schwartz, C.; Alexov, E.; Van Esch, H.: A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics 22 (18), pp. 3789 - 3797 (2013)

MPG.PuRe

publisher-version

Wang, Y.; Gogol-Doring, A.; Hu, H.; Frohler, S.; Ma, Y.; Jens, M.; Maaskola, J.; Murakawa, Y.; Quedenau, C.; Landthaler, M. et al.; Kalscheuer, V.; Wieczorek, D.; Wang, Y.; Hu, Y.; Chen, W.: Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 5 (9), pp. 1431 - 1442 (2013)

MPG.PuRe

publisher-version

Rademacher, N.; Kunde, S.-A.; Kalscheuer, V. M.; Shoichet, S. A.: Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding. Chemistry & Biology 20 (8), pp. 1044 - 1054 (2013)

MPG.PuRe

publisher-version

Van Maldergem, L.; Hou, Q.; Kalscheuer, V. M.; Rio, M.; Doco-Fenzy, M.; Medeira, A.; de Brouwer, A. P.; Cabrol, C.; Haas, S. A.; Cacciagli, P. et al.; Moutton, S.; Landais, E.; Motte, J.; Colleaux, L.; Bonnet, C.; Villard, L.; Dupont, J.; Man, H. Y.: Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Human Molecular Genetics 22 (16), pp. 3306 - 3314 (2013)

MPG.PuRe

publisher-version

Depienne, C.; Bugiani, M.; Dupuits, C.; Galanaud, D.; Touitou, V.; Postma, N.; van Berkel, C.; Polder, E.; Tollard, E.; Darios, F. et al.; Brice, A.; de Die-Smulders, C. E.; Vles, J. S.; Vanderver, A.; Uziel, G.; Yalcinkaya, C.; Frints, S. G.; Kalscheuer, V. M.; Klooster, J.; Kamermans, M.; Abbink, T. E.; Wolf, N. I.; Sedel, F.; van der Knaap, M. S.: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurology 12 (7), pp. 659 - 668 (2013)

MPG.PuRe

publisher-version

Isrie, M.; Kalscheuer, V. M.; Holvoet, M.; Fieremans, N.; Van Esch, H.; Devriendt, K.: HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics 56 (7), pp. 379 - 382 (2013)

MPG.PuRe

publisher-version

Haddad, D. M.; Vilain, S.; Vos, M.; Esposito, G.; Matta, S.; Kalscheuer, V. M.; Craessaerts, K.; Leyssen, M.; Nascimento, R. M.; Vianna-Morgante, A. M. et al.; De Strooper, B.; Van Esch, H.; Morais, V. A.; Verstreken, P.: Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell 50 (6), pp. 831 - 843 (2013)

MPG.PuRe

publisher-version

Hirata, H.; Nanda, I.; van Riesen, A.; McMichael, G.; Hu, H.; Hambrock, M.; Papon, M. A.; Fischer, U.; Marouillat, S.; Ding, C. et al.; Alirol, S.; Bienek, M.; Preisler-Adams, S.; Grimme, A.; Seelow, D.; Webster, R.; Haan, E.; MacLennan, A.; Stenzel, W.; Yap, T. Y.; Gardner, A.; Nguyen, L. S.; Shaw, M.; Lebrun, N.; Haas, S. A.; Kress, W.; Haaf, T.; Schellenberger, E.; Chelly, J.; Viot, G.; Shaffer, L. G.; Rosenfeld, J. A.; Kramer, N.; Falk, R.; El-Khechen, D.; Escobar, L. F.; Hennekam, R.; Wieacker, P.; Hubner, C.; Ropers, H. H.; Gecz, J.; Schuelke, M.; Laumonnier, F.; Kalscheuer, V. M.: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 92 (5), pp. 681 - 695 (2013)

MPG.PuRe

publisher-version

Gilling, M.; Rasmussen, H. B.; Calloe, K.; Sequeira, A. F.; Baretto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M. B.; Ullmann, R.; Boonen, S. E. et al.; Brondum-Nielsen, K.; Kalscheuer, V. M.; Tumer, Z.; Vicente, A. M.; Schmitt, N.; Tommerup, N.: Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics 4, p. 4:54 - 4:54 (2013)

MPG.PuRe

publisher-version

Kunde, S.-A.; Rademacher, N.; Tzschach, A.; Wiedersberg, E.; Ullmann, R.; Kalscheuer, V. M.; Shoichet, S. A.: Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. Human Genetics 132 (4), pp. 461 - 471 (2013)

MPG.PuRe

publisher-version

2012

Huang, L.; Jolly, L. A.; Willis-Owen, S.; Gardner, A.; Kumar, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M. et al.; Hackett, A.; Field, M.; Froyen, G.; Hu, H. C.; Haas, S.; Ropers, H.-H.; Kalscheuer, V. M.; Corbett, M. A.; Gecz, J.: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 91 (4), pp. 694 - 702 (2012)

MPG.PuRe

publisher-version

Zanni, G.; Cali, T.; Kalscheuer, V. M.; Ottolini, D.; Barresi, S.; Lebrun, N.; Montecchi-Palazzi, L.; Hu, H.; Chelly, J.; Bertini, E. et al.; Brini, M.; Carafoli, E.: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 109 (36), pp. 14514 - 14519 (2012)

MPG.PuRe

publisher-version

Ricciardi, S.; Ungaro, F.; Hambrock, M.; Rademacher, N.; Stefanelli, G.; Brambilla, D.; Sessa, A.; Magagnotti, C.; Bachi, A.; Giarda, E. et al.; Verpelli, C.; Kilstrup-Nielsen, C.; Sala, C.; Kalscheuer, V. M.; Broccoli, V.: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 14 (9), pp. 911 - 923 (2012)

MPG.PuRe

publisher-version

Kim, H.-G.; Kim, H. T.; Leach, N. T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I. S.; Shen, Y. et al.; Talkowski, M. E.; Ruderfer, D.; Lee, J. H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A. V.; Romeike, B. F.; Kleefstra, T.; Bartsch, O.; Elsea, S. H.; Jabs, E. W.; Macdonald, M. E.; Harris, D. J.; Quade, B. J.; Ropers, H.-H.; Shaffer, L. G.; Kutsche, K.; Layman, L. C.; Tommerup, N.; Kalscheuer, V. M.; Shi, Y.; Morton, C. C.; Kim, C. H.; Gusella, J. F.: Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. The American Journal of Human Genetics 91 (1), pp. 56 - 72 (2012)

MPG.PuRe

publisher-version

Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P.; Christodoulou, J.; Hillebrand, M.; Pitelet, G.; Wilson, C. et al.; Gruber-Sedlmayr, U.; Ullmann, R.; Haas, S.; Elpeleg, O.; Nürnberg, G.; Nürnberg, P.; Dad, S.; Møller, L. B.; Kaler, S. G.; Gärtner, J.: Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 90 (1), pp. 61 - 8 (2012)

MPG.PuRe

publisher-version

Emde, A. K.; Schulz, M. H.; Weese, D.; Sun, R.; Vingron, M.; Kalscheuer, V. M.; Haas, S.; Reinert, K.: Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 28 (5), pp. 619 - 27 (2012)

MPG.PuRe

publisher-version

Höckner, M.; Spreiz, A.; Frühmesser, A.; Tzschach, A.; Dufke, A.; Rittinger, O.; Kalscheuer, V.; Singer, S.; Erdel, M.; Fauth, C. et al.; Grossmann, V.; Utermann, G.; Zschocke, J.; Kotzot, D.: Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations. Cytogenetics and Genome Research 136 (4), pp. 242 - 245 (2012)

MPG.PuRe

publisher-version

Singer, H.; Walier, M.; Nusgen, N.; Meesters, C.; Schreiner, F.; Woelfle, J.; Fimmers, R.; Wienker, T.; Kalscheuer, V. M.; Becker, T. et al.; Schwaab, R.; Oldenburg, J.; El-Maarri, O.: Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci. Human Molecular Genetics 21 (1), pp. 219 - 35 (2012)

MPG.PuRe

publisher-version

2011

Gilling, M.; Lind-Thomsen, A.; Mang, Y.; Bak, M.; Moller, M.; Ullmann, R.; Kristoffersson, U.; Kalscheuer, V. M.; Henriksen, K. F.; Bugge, M. et al.; Tumer, Z.; Tommerup, N.: Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 54 (4), pp. e383 - 8 (2011)

MPG.PuRe

Jensen, L. R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V. M.; Meloni, I.; Raynaud, M. et al.; van Esch, H.; Chelly, J.; de Brouwer, A. P.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H. H.; Kuss, A. W.: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 19 (6), pp. 717 - 20 (2011)

MPG.PuRe

Kunde, S. A.; Musante, L.; Grimme, A.; Fischer, U.; Muller, E.; Wanker, E. E.; Kalscheuer, V. M.: The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet 20 (24), pp. 4916 - 31 (2011)

MPG.PuRe

Love, M. I.; Mysickova, A.; Sun, R.; Kalscheuer, V. M.; Vingron, M.; Haas, S. A.: Modeling read counts for CNV detection in exome sequencing data. Statistical Applications in Genetics and Molecular Biology 10 (1) (2011)

MPG.PuRe

publisher-version

Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), pp. 57 - 63 (2011)

MPG.PuRe

Pagan, C.; Botros, H. G.; Poirier, K.; Dumaine, A.; Jamain, S.; Moreno, S.; de Brouwer, A.; Van Esch, H.; Delorme, R.; Launay, J. M. et al.; Tzschach, A.; Kalscheuer, V.; Lacombe, D.; Briault, S.; Laumonnier, F.; Raynaud, M.; van Bon, B. W.; Willemsen, M. H.; Leboyer, M.; Chelly, J.; Bourgeron, T.: Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 12, p. 17 (2011)

MPG.PuRe

Rademacher, N.; Hambrock, M.; Fischer, U.; Moser, B.; Ceulemans, B.; Lieb, W.; Boor, R.; Stefanova, I.; Gillessen-Kaesbach, G.; Runge, C. et al.; Korenke, G. C.; Spranger, S.; Laccone, F.; Tzschach, A.; Kalscheuer, V. M.: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12 (2), pp. 165 - 7 (2011)

MPG.PuRe

Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), pp. 628 - 34 (2011)

MPG.PuRe

Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), pp. 628 - 34 (2011)

MPG.PuRe

Strobl-Wildemann, G.; Kalscheuer, V. M.; Hu, H.; Wrogemann, K.; Ropers, H. H.; Tzschach, A.: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 155A (12), pp. 3067 - 70 (2011)

MPG.PuRe

2010

Kim, H.-G.; Ahn, J.-W.; Kurth, I.; Ullmann, R.; Kim, H.-T.; Kulharya, A.; Ha, K.-S.; Itokawa, Y.; Meliciani, I.; Wolfgang Wenzel, W. W. et al.; Lee, D.; Rosenberger, G.; Ozata, M.; Bick, D. P.; Sherins, R. J.; Nagase, T.; Tekin, M.; Kim, S.-H.; Kim, C.-H.; Ropers, H.-H.; Gusella, J. F.; Kalscheuer, V. M.; Choi, C. Y.; Layman, L. C.: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 87 (4), pp. 465 - 479 (2010)

MPG.PuRe

Endele, S.; Rosenberger, G.; Geider, K.; Popp, B.; Tamer, C.; Stefanova, I.; Milh, M.; Kortüm, F.; Fritsch, A.; Pientka, F. K. et al.; Hellenbroich, Y.; Kalscheuer, V. M.; Kohlhase, J.; Moog, U.; Rappold, G.; Rauch, A.; Ropers, H.-H.; von Spiczak, S.; Tönnies, H.; Villeneuve, N.; Villard, L.; Zabel, B.; Zenker, M.; Laube, B.; Reis, A.; Wieczorek, D.; Van Maldergem, L.; Kutsche, K.: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics. 42 (11), pp. 1021 - 1026 (2010)

MPG.PuRe

Goswami, C.; Rademacher, N.; Smalla, K.-H.; Kalscheuer, V. M.; Ropers, H.-H.; Gundelfinger, E. D.; Hucho, T.: TRPV1 acts as a synaptic protein and regulates vesicle recycling. Journal of Cell Science 123 (12), pp. 2045 - 2057 (2010)

MPG.PuRe

Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), p. 83 - 83 (2010)

MPG.PuRe

Tzschach, A.; Menzel, C.; Erdogan, F.; Istifli, E. S.; Rieger, M.; Ovens-Raeder, A.; Macke, A.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152A (4), pp. 1008 - 1012 (2010)

MPG.PuRe

Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)

MPG.PuRe

Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)

MPG.PuRe

Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), pp. 185 - 195 (2010)

MPG.PuRe

Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)

MPG.PuRe

Córdova-Fletes, C.; Rademacher, N.; Müller, I.; Mundo-Ayala, J. N.; Morales-Jeanhs, E. A.; García-Ortiz, J. E.; León-Gil, A.; Rivera, H.; Domínguez, M. G.; Kalscheuer, V. M.: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics 77 (1), pp. 92 - 96 (2010)

MPG.PuRe

Musante, L.; Kunde, S.-A.; Sulistio, T. O.; Frints, S. G.M.; Schwartz, C. E.; Martínez, F.; Romano, C.; Ropers, H.-H.; Kalscheuer, V. M.; Fischer, U. et al.; Grimme, A.: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 31 (1), pp. 90 - 98 (2010)

MPG.PuRe

2009

Krauß, S.; So, J.; Hambrock, M.; Köhler, A.; Kunath, M.; Scharff, C.; Wessling, M.; Grzeschik, K.-H.; Schneider, R.; Schweiger, S.: Point mutations in GLI3 lead to misregulation of its subcellular localization. PLoS ONE 4, p. e7471 - e7471 (2009)

MPG.PuRe

Tzschach, A.; Ramel, C.; Kron, A.; Seipel, B.; Wüster, C.; Cordes, U.; Liehr, T.; Hoeltzenbein, M.; Menzel, C.; Ropers, H.-H. et al.; Ullmann, R.; Kalscheuer, V.; Decker, J.; Steinberger, D.: Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology 32 (3), pp. 226 - 230 (2009)

MPG.PuRe

Neumann, T. E.; Allanson, J.; Kavamura, I.; Kerr, B.; Neri, G.; Noonan, J.; Cordeddu, V.; Gibson, K.; Tzschach, A.; Krüger, G. et al.; Hoeltzenbein, M.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Sasiadek, M. M.; Musante, L.; Laurie, R.; Peters, H.; Tartaglia, M.; Zenker, M.; Kalscheuer, V. M.: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 17 (4), pp. 420 - 425 (2009)

MPG.PuRe

Kalscheuer, V. M.; Musante, L.; Fang, C.; Hoffmann, K.; Fuchs, C.; Carta, E.; Deas, E.; Venkateswarlu, K.; Menzel, C.; Ullmann, R. et al.; Tommerup, N.; Dalprà, L.; Tzschach, A.; Selicorni, A.; Lüscher, B.; Ropers, H.-H.; Harvey, K.; Harvey, R. J.: A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 30 (1), pp. 61 - 68 (2009)

MPG.PuRe

2008

Kalscheuer, V. M.; Feenstra, I.; Van Ravenswaaij-Arts, C. M. A.; Smeets, D. F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; r Ropers, H.-H.: Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 146 A (16), pp. 2053 - 2059 (2008)

MPG.PuRe

Mller, R. S.; Kübart, S.; Hoeltzenbein, M.; Heye, B.; Vogel, I.; Hansen, C. P.; Menzel, C.; Ullmann, R.; Tommerup, N.; Ropers, H.-H. et al.; Tümer, Z.; Kalscheuer, V. M.: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics 82 (5), pp. 1165 - 1170 (2008)

MPG.PuRe

Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), pp. 1143 - 1149 (2008)

MPG.PuRe

Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), pp. 37 - 40 (2008)

MPG.PuRe

Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), pp. 337 - 342 (2008)

MPG.PuRe

2007

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), pp. 172 - 178 (2007)

MPG.PuRe

Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), pp. 172 - 178 (2007)

MPG.PuRe

Tzschach, A.; Menzel, C.; Erdogan, F.; Schubert, M.; Hoeltzenbein, M.; Barbi, G.; Petzenhauser, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics 143 A (4), pp. 333 - 337 (2007)

MPG.PuRe

de Brouwer, A. P.M.; Yntema, H. G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A. R.; de Vries, B. B. A.; van Bokhoven, H.; van Esch, H.; Frints, S. G. M.; Froyen, G. et al.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; des Portes, V.; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A. W.; Tzschach, A.; Jensen, L. R.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.; Hamel, B. C.J.: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 28 (2), pp. 207 - 208 (2007)

MPG.PuRe

Kalscheuer, V. M.; FitzPatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L. M.; Tzschach, A.; Shoichet, S. A.; Menzel, C.; Erdogan, F. et al.; Arkesteijn, G.; Ropers, H.-H.; Ullmann, R.: Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 121 (3-4), pp. 501 - 509 (2007)

MPG.PuRe

2006

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics Part A 132A (1), pp. 1 - 7 (2006)

MPG.PuRe

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics Part A 132A (1), pp. 1 - 7 (2006)

MPG.PuRe

Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), pp. 247 - 253 (2006)

MPG.PuRe

Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), pp. 247 - 253 (2006)

MPG.PuRe

Bartsch, O.; Rasi, S.; Delicado, A.; Dyack, S.; Neumann, L. M.; Seemanová, E.; Volleth, M.; Haaf, T.; Kalscheuer, V. M.: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome. Human Genetics 120 (3), pp. 179 - 186 (2006)

MPG.PuRe

Tagariello, A.; Heller, R.; Greven, A.; Kalscheuer, V. M.; Molter, T.; Rauch, A.; Kress, W.; Winterpacht, A.: Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region. Journal of Medical Genetics 43, pp. 534 - 540 (2006)

MPG.PuRe

Piovani, G.; Borsani, G.; Bertini, V.; Kalscheuer, V. M.; Viertel, P.; Bellotti, D.; Valseriati, D.; Barlati, S.: Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype. European Journal of Medical Genetics 49 (3), pp. 215 - 223 (2006)

MPG.PuRe

Gamerdinger, U.; Bosse, K.; Eggermann, T.; Kalscheuer, V. M.; Schwanitz, G.; Engels, H.: First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization. European Journal of Medical Genetics 49 (3), pp. 225 - 234 (2006)

MPG.PuRe

Tzschach, A.; Krause-Plonka, I.; Menzel, C.; Knoblauch, A.; Toennies, H.; Hoeltzenbein, M.; Radke, M.; Ropers, H.-H.; Kalscheuer, V. M.: Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. American Journal of Medical Genetics Part A 140 (10), pp. 1108 - 1110 (2006)

MPG.PuRe

Hagens, O.; Ballabio, A.; Kalscheuer, V. M.; Kraehenbuhl, J.-P.; Schiaffino, M. V.; Smith, P.; Staub, O.; Hildebrand, J.; Wallingford, J. B. ..: A new standard nomenclature for proteins related to Apx and Shroom. BMC Cell Biology 7, pp. 18 - 19 (2006)

MPG.PuRe

Gilling, M.; Dullinger, J. S.; Gesk, S.; Metzke-Heidemann, S.; Siebert, R.; Meyer, T.; Brondum-Nielsen, K.; Tommerup, N.; Ropers, H.-H.; Tümer, Z. et al.; Kalscheuer, V. M.; Thomas, N. S.: Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans. American Journal of Human Genetics: AJHG / American Society of Human Genetics 78 (5), pp. 878 - 883 (2006)

MPG.PuRe

Cossée, M.; Demeer, B.; Blanchet, P.; Echenne, B.; Singh, D.; Hagens, O.; Antin, M.; Finck, S.; Vallee, L.; Dollfus, H. et al.; Hegde, S.; Springell, K.; Thelma, B. K. ..; Woods, G.; Kalscheuer, V. M.; Mandel, J.-L.: Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics 14 (4), pp. 418 - 425 (2006)

MPG.PuRe

Schubbert, S.; Zenker, M.; Rowe, S. L. ..; Böll, S.; Klein, C.; Bollag, G.; van der Burgt, I.; Musante, L.; Kalscheuer, V. M.; Wehner, L.-E. et al.; Nguyen, H.; West, B.; Zhang, K. Y. J.; Sistermans, E.; Rauch, A.; Niemeyer, C. M.; Shannon, K.; Kratz, C. P.: Germline KRAS mutations cause Noonan syndrome. Nature Genetics 38 (3), pp. 331 - 336 (2006)

MPG.PuRe

Tzschach, A.; Krause-Plonka, I.; Menzel, C.; Kalscheuer, V. M.; Toennies, H.; Scherthan, H.; Knoblauch, A.; Radke, M.; Ropes, H.-H.; Hoeltzenbein, M.: Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics 140 (5), pp. 496 - 502 (2006)

MPG.PuRe

Dlugaszewska, B.; Silahtaroglu, A.; Menzel, C.; Kübart, S.; Cohen, M.; Mundlos, S.; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, H.-H. et al.; Tommerup, N.; Neitzerl, H.; Kalscheuer, V. M.: Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 43 (2), pp. 111 - 118 (2006)

MPG.PuRe

Dlugaszewska, B.; Silahtaroglu, A.; Menzel, C.; Kübart, S.; Cohen, M.; Mundlos, S.; Tümer, Z.; Kjaer, K.; Friedrich, U.; Ropers, H.-H. et al.; Tommerup, N.; Neitzerl, H.; Kalscheuer, V. M.: Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 43 (2), pp. 111 - 118 (2006)

MPG.PuRe

Tzschach,, A.; Hoffmann, K.; Hoeltzenbein, M.; Bache, I.; Tommerup, N.; Bommer, C.; Körner, H.; Kalscheuer, V. M.; Ropers, H.-H.: Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris. Clinical Genetics 69 (2), pp. 189 - 193 (2006)

MPG.PuRe

Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.-P.; Chelly, J. et al.; van Bokhoven, H.; Gécz, J.; Dollfus, H.; Ropers, H.-H.; Schwartz, C. E.; de Cassia Stocco dos Santos, R.; Kalscheuer, V. M.; Hanauer, A.: Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics 118 (5), pp. 578 - 590 (2006)

MPG.PuRe

Hagens, O.; Minina, E.; Schweiger, S.; Ropers, H.-H.; Kalscheuer, V. M.: Characterization of FBX25, encoding a novel brain-expressed F-box protein. Biochimica et Biophysica Acta (BBA) - General Subjects 1760 (1), pp. 110 - 118 (2006)

MPG.PuRe

Shoichet, S. A.; Duprez, L.; Hagens, O.; Waetzig, V.; Menzel, C.; Herdegen, T.; Schweiger, S.; Dan, B.; Vamos, E.; Ropers, H.-H. et al.; Kalscheuer, V. M.: Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Human Genetics 118 (5), pp. 559 - 567 (2006)

MPG.PuRe

2005

Zahn, S.; Ehrbrecht, A.; Bosse, K.; Kalscheuer, V. M.; Propping, P.; Schwanitz, G.; Albrecht, B.; Engels, H.: Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1. American Journal of Medical Genetics: Part A 139 (1), pp. 19 - 24 (2005)

MPG.PuRe

Shoichet, S. A.; Kunde, S.-A.; Viertel, P.; Schell-Apacik, C.; von Voss, H.; Tommerup, N.; Ropers, H.-H.; Kalscheuer, V. M.: Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Human Genetics 117 (6), pp. 536 - 544 (2005)

MPG.PuRe

Borg, I.; Freude, K.; Kuebart, S.; Hoffmann, K.; Menzel, C.; Laccone, F.; Firth, H.; Ferguson-Smith, M. A.; Tommerup, N.; Ropers, H.-H. et al.; Sargan, D.; Kalscheuer, V. M.: Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. European Journal of Human Genetics 13 (8), pp. 921 - 927 (2005)

MPG.PuRe

Backsch, C.; Rudolph, B.; Kuehne-Hei, R.; Kalscheuer, V.; Bartsch, O.; Jansen, L.; Beer, K.; Meyer, B.; Schneider, A.; Duerst, M.: A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis. Genes Chromosomes & Cancer 43 (12), pp. 260 - 267 (2005)

MPG.PuRe

Foerster, J.; Nolte, I.; Junge, J.; Bruinenberg, M.; Schweiger, S.; Spaar, K.; van der Steege, G.; Ehlert, C.; Mulder, M.; Kalscheuer, V.: Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 124 (1), pp. 99 - 102 (2005)

MPG.PuRe

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)

MPG.PuRe

Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimme, V.; Tzschach, A.; Janecke, A. R.; Tariverdian, G.; Chelly, J.; Fryns, J.-P. et al.; Van Esch, H.; Kleefstra, T.; Hame, B.; Moraine, C.; Gécz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V. M.; Ropers, H.-H.; Lenzner, S.: : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 76 (2), pp. 227 - 236 (2005)

MPG.PuRe

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)

MPG.PuRe

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)

MPG.PuRe