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Journal Article (200)

21.
Journal Article
Iqbal, Z.; Willemsen, M. H.; Papon, M. A.; Musante, L.; Benevento, M.; Hu, H.; Venselaar, H.; Wissink-Lindhout, W. M.; Vulto-van Silfhout, A. T.; Vissers, L. E. et al.; de Brouwer, A. P.; Marouillat, S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Nadif Kasri, N.; Najmabadi, H.; Laumonnier, F.; Kleefstra, T.; van Bokhoven, H.: Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 96 (3), pp. 386 - 396 (2015)
22.
Journal Article
Larti, F.; Kahrizi, K.; Musante, L.; Hu, H.; Papari, E.; Fattahi, Z.; Bazazzadegan, N.; Liu, Z.; Banan, M.; Garshasbi, M. et al.; Wienker, T. F.; Ropers, H.-H.; Galjart, N.; Najmabadi, H.: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 23 (3), pp. 331 - 336 (2015)
23.
Journal Article
Oladnabi, M.; Musante, L.; Larti, F.; Hu, H.; Abedini, S. S.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Najmabadi, H.: New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine 18 (3), pp. 179 - 184 (2015)
24.
Journal Article
Davarniya, B.; Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Hosseini, M.; Maqsoud, F.; Farajollahi, R.; Wienker, T. F.; Ropers, H. H. et al.; Najmabadi, H.: The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 10 (8), e0129631 (2015)
25.
Journal Article
Hu, H.; Liu, X.; Jin, W.; Ropers, H. H.; Wienker, T. F.: Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports 5, 5:10247 (2015)
26.
Journal Article
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)
27.
Journal Article
Hu, H.; Matter, M. L.; Issa-Jahns, L.; Jijiwa, M.; Kraemer, N.; Musante, L.; de la Vega, M.; Ninnemann, O.; Schindler, D.; Damatova, N. et al.; Eirich, K.; Sifringer, M.; Schrotter, S.; Eickholt, B. J.; van den Heuvel, L.; Casamina, C.; Stoltenburg-Didinger, G.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 1 (12), pp. 1024 - 1035 (2014)
28.
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)
29.
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)
30.
Journal Article
Thorwarth, A.; Schnittert-Hübener, S.; Schrumpf, P.; Müller, I.; Jyrch, S.; Dame, C.; Biebermann, H.; Kleinau, G.; Katchanov, J.; Schuelke, M. et al.; Ebert, G.; Steininger, A.; Bonnemann, C.; Brockmann, K.; Christen, H. J.; Crock, P.; deZegher, F.; Griese, M.; Hewitt, J.; Ivarsson, S.; Hübner, C.; Kapelari, K.; Plecko, B.; Rating, D.; Stoeva, I.; Ropers, H. H.; Grüters, A.; Ullmann, R.; Krude, H.: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics 51 (6), pp. 375 - 387 (2014)
31.
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)
32.
Journal Article
Hu, H.; Suckow, V.; Musante, L.; Roggenkamp, V.; Kraemer, N.; Ropers, H. H.; Hübner, C.; Wienker, T. F.; Kaindl, A. M.: Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 13 (10), pp. 1650 - 1651 (2014)
33.
Journal Article
Musante, L.; Ropers, H.-H.: Genetics of recessive cognitive disorders. Trends in Genetics 30 (1), pp. 32 - 39 (2014)
34.
Journal Article
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)
35.
Journal Article
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), pp. 1915 - 1922 (2013)
36.
Journal Article
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)
37.
Journal Article
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), pp. 488 - 490 (2013)
38.
Journal Article
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), pp. 2244 - 2256 (2013)
39.
Journal Article
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), p. 5:11 - 5:11 (2013)
40.
Journal Article
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), pp. 92 - 95 (2013)
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