All Publications

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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

Journal Article

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