Publications of Hao Hu

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)

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)

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)

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)

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)

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)

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)

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)

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)

Reuter, M. S.; Musante, L.; Hu, H.; Diederich, S.; Sticht, H.; Ekici, A. B.; Uebe, S.; Wienker, T. F.; Bartsch, O.; Zechner, U. et al.; Oppitz, C.; Keleman, K.; Jamra, R. A.; Najmabadi, H.; Schweiger, S.; Reis, A.; Kahrizi, K.: NDST1 missense mutations in autosomal recessive intellectual disability. American Journal of Medical Genetics Part A 164A (11), pp. 2753 - 2763 (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)

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)

Ebert, G.; Steininger, A.; Weissmann, R.; Boldt, V.; Lind-Thomsen, A.; Grune, J.; Badelt, S.; Hessler, M.; Peiser, M.; Hitzler, M. et al.; Jensen, L. R.; Müller, I.; Hu, H.; Arndt, P. F.; Kuss, A. W.; Tebel, K.; Ullmann, R.: Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics 15, p. 15:537 - 15:537 (2014)

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)

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)

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)

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)

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)