Publikationen von H. Hu

Zeitschriftenartikel (36)

21.
Zeitschriftenartikel
Zanni, G.; Cali, T.; Kalscheuer, V. M.; Ottolini, D.; Barresi, S.; Lebrun, N.; Montecchi-Palazzi, L.; Hu, H.; Chelly, J.; Bertini, E. et al.; Brini, M.; Carafoli, E.: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 109 (36), S. 14514 - 14519 (2012)
22.
Zeitschriftenartikel
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)
23.
Zeitschriftenartikel
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)
24.
Zeitschriftenartikel
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)
25.
Zeitschriftenartikel
Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), S. 57 - 63 (2011)
26.
Zeitschriftenartikel
Pak, C.; Garshasbi, M.; Kahrizi, K.; Gross, C.; Apponi, L. H.; Noto, J. J.; Kelly, S. M.; Leung, S. W.; Tzschach, A.; Behjati, F. et al.; Abedini, S. S.; Mohseni, M.; Jensen, L. R.; Hu, H.; Huang, B.; Stahley, S. N.; Liu, G.; Williams, K. R.; Burdick, S.; Feng, Y.; Sanyal, S.; Bassell, G. J.; Ropers, H. H.; Najmabadi, H.; Corbett, A. H.; Moberg, K. H.; Kuss, A. W.: Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A 108 (30), S. 12390 - 5 (2011)
27.
Zeitschriftenartikel
Rafiq, M. A.; Kuss, A. W.; Puettmann, L.; Noor, A.; Ramiah, A.; Ali, G.; Hu, H.; Kerio, N. A.; Xiang, Y.; Garshasbi, M. et al.; Khan, M. A.; Ishak, G. E.; Weksberg, R.; Ullmann, R.; Tzschach, A.; Kahrizi, K.; Mahmood, K.; Naeem, F.; Ayub, M.; Moremen, K. W.; Vincent, J. B.; Ropers, H. H.; Ansar, M.; Najmabadi, H.: Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 89 (1), S. 176 - 82 (2011)
28.
Zeitschriftenartikel
Ropers, F.; Derivery, E.; Hu, H.; Garshasbi, M.; Karbasiyan, M.; Herold, M.; Nurnberg, G.; Ullmann, R.; Gautreau, A.; Sperling, K. et al.; Varon, R.; Rajab, A.: Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 20 (13), S. 2585 - 90 (2011)
29.
Zeitschriftenartikel
Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), S. 628 - 34 (2011)
30.
Zeitschriftenartikel
Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), S. 628 - 34 (2011)
31.
Zeitschriftenartikel
Strobl-Wildemann, G.; Kalscheuer, V. M.; Hu, H.; Wrogemann, K.; Ropers, H. H.; Tzschach, A.: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 155A (12), S. 3067 - 70 (2011)
32.
Zeitschriftenartikel
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.; Saghar 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 nvel loci and several mutation hotspots. Human Genetics 129 (2), S. 141 - 148 (2010)
33.
Zeitschriftenartikel
Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), S. 83 - 83 (2010)
34.
Zeitschriftenartikel
Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
35.
Zeitschriftenartikel
Hu, H. Y.; Yan, Z.; Xu, Y.; Hu, H.; Menzel, C.; Zhou, Y. H.; Chen, W.; Khaitovich, P.: Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 10, S. 413 - 413 (2009)
36.
Zeitschriftenartikel
Fu, X.; Fu, N.; Guo, S.; Yan, Z.; Xu, Y.; Hu, H.; Menzel, C.; Chen, W.; Li, Y.; Zeng, R. et al.; Khaitovich, P.: Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics 10, S. 161 - 161 (2009)
Zur Redakteursansicht