Publikationen von H. H. Ropers

Puettmann, L.; Stehr, H.; Garshasbi, M.; Hu, H.; Kahrizi, K.; Lipkowitz, B.; Jamali, P.; Tzschach, A.; Najmabadi, H.; Ropers, H. H. et al.; Musante, L.; Kuss, A. W.: A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A 161A (8), S. 1915 - 1922 (2013)

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), S. 681 - 695 (2013)

Papari, E.; Bastami, M.; Farhadi, A.; Abedini, S.; Hosseini, M.; Bahman, I.; Mohseni, M.; Garshasbi, M.; Moheb, L. A.; Behjati, F. et al.; Kahrizi, K.; Ropers, H.-H.; Najmabadi, H.: Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics: an international journal of genetics in medicine 83 (5), S. 488 - 490 (2013)

Starokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G. N.; Mao, X.; Zaidi, I. W.; Hein, M. Y.; McDonald, F. J. et al.; Lenzner, S.; Zecha, A.; Ropers, H. H.; Kuss, A. W.; McGaughran, J.; Gecz, J.; Burstein, E.: CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. The Journal of Clinical Investigation 123 (5), S. 2244 - 2256 (2013)

Bainbridge, M. N.; Hu, H.; Muzny, D. M.; Musante, L.; Lupski, J. R.; Graham, B. H.; Chen, W.; Gripp, K. W.; Jenny, K.; Wienker, T. F. et al.; Yang, Y.; Sutton, V. R.; Gibbs, R. A.; Ropers, H. H.: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 5 (2), S. 5:11 - 5:11 (2013)

Hoffer, J. L.; Fryssira, H.; Konstantinidou, A.; Ropers, H.-H.; Tzschach, A.: Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). Clinical Genetics: an international journal of genetics in medicine 83 (1), S. 92 - 95 (2013)

Hucho, T.; Suckow, V.; Joseph, E. K.; Kuhn, J.; Schmoranzer, J.; Dina, O. A.; Chen, X.; Karst, M.; Bernateck, M.; Levine, J. D. et al.; Ropers, H.-H.: Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry: official journal of the International Society for Neurochemistry 123 (4), S. 589 - 601 (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), S. 694 - 702 (2012)

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), S. 56 - 72 (2012)

Ropers, H.-H.: On the future of genetic risk assessment. Journal of Community Genetics 3 (3), S. 229 - 236 (2012)

Abbasi-Moheb, L.; Mertel, S.; Gonsior, M.; Nouri-Vahid, L.; Kahrizi, K.; Cirak, S.; Wieczorek, D.; Motazacker, M. M.; Esmaeeli-Nieh, S.; Cremer, K. et al.; Weissmann, R.; Tzschach, A.; Garshasbi, M.; Abedini, S. S.; Najmabadi, H.; Ropers, H.-H.; Sigrist, S. J.; Kuss, A. W.: Mutations in NSUN2 cause autosomal-recessive intellectual disability. American Journal of Human Genetics 90 (5), S. 847 - 855 (2012)

Cingoz, S.; Bache, I.; Bjerglund, L.; Ropers, H. H.; Tommerup, N.; Jensen, H.; Brondum-Nielsen, K.; Tumer, Z.: Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A 155A (1), S. 203 - 6 (2011)

Fullston, T.; Gabb, B.; Callen, D.; Ullmann, R.; Woollatt, E.; Bain, S.; Ropers, H. H.; Cooper, M.; Chandler, D.; Carter, K. et al.; Jablensky, A.; Kalaydjieva, L.; Gecz, J.: Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 156 (2), S. 204 - 14 (2011)

Garshasbi, M.; Kahrizi, K.; Hosseini, M.; Nouri Vahid, L.; Falah, M.; Hemmati, S.; Hu, H.; Tzschach, A.; Ropers, H. H.; Najmabadi, H. et al.; Kuss, A. W.: A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A 155A (8), S. 1976 - 80 (2011)

Hu, H.; Eggers, K.; Chen, W.; Garshasbi, M.; Motazacker, M. M.; Wrogemann, K.; Kahrizi, K.; Tzschach, A.; Hosseini, M.; Bahman, I. et al.; Hucho, T.; Muhlenhoff, M.; Gerardy-Schahn, R.; Najmabadi, H.; Ropers, H. H.; Kuss, A. W.: ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 89 (3), S. 407 - 14 (2011)

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), S. 717 - 20 (2011)

Kahrizi, K.; Hu, C. H.; Garshasbi, M.; Abedini, S. S.; Ghadami, S.; Kariminejad, R.; Ullmann, R.; Chen, W.; Ropers, H. H.; Kuss, A. W. et al.; Najmabadi, H.; Tzschach, A.: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 19 (1), S. 115 - 7 (2011)

Kariminejad, R.; Lind-Thomsen, A.; Tumer, Z.; Erdogan, F.; Ropers, H. H.; Tommerup, N.; Ullmann, R.; Moller, R. S.: High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 32 (12), S. 1427 - 35 (2011)

Kuss, A. W.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Behjati, F.; Darvish, H.; Abbasi-Moheb, L.; Puettmann, L.; Zecha, A.; Weissmann, R. et al.; Hu, H.; Mohseni, M.; Abedini, S. S.; Rajab, A.; Hertzberg, C.; Wieczorek, D.; Ullmann, R.; Ghasemi-Firouzabadi, S.; Banihashemi, S.; Arzhangi, S.; Hadavi, V.; Bahrami-Monajemi, G.; Kasiri, M.; Falah, M.; Nikuei, P.; Dehghan, A.; Sobhani, M.; Jamali, P.; Ropers, H. H.; Najmabadi, H.: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 129 (2), S. 141 - 8 (2011)

Lesch, K. P.; Selch, S.; Renner, T. J.; Jacob, C.; Nguyen, T. T.; Hahn, T.; Romanos, M.; Walitza, S.; Shoichet, S.; Dempfle, A. et al.; Heine, M.; Boreatti-Hummer, A.; Romanos, J.; Gross-Lesch, S.; Zerlaut, H.; Wultsch, T.; Heinzel, S.; Fassnacht, M.; Fallgatter, A.; Allolio, B.; Schafer, H.; Warnke, A.; Reif, A.; Ropers, H. H.; Ullmann, R.: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 16 (5), S. 491 - 503 (2011)