Publications of V. M. Kalscheuer

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)