Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)

Zeitschriftenartikel (8)

  1. 1.
    Zeitschriftenartikel
    Ropers, H. H.; Wienker, T. F.: Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 58 (12), S. 715 - 718 (2015)
  2. 2.
    Zeitschriftenartikel
    Heidari, A.; Tongsook, C.; Najafipour, R.; Musante, L.; Vasli, N.; Garshasbi, M.; Hu, H.; Mittal, K.; McNaughton, A. J.; Sritharan, K. et al.; Hudson, M.; Stehr, H.; Talebi, S.; Moradi, M.; Darvish, H.; Arshad Rafiq, M.; Mozhdehipanah, H.; Rashidinejad, A.; Samiei, S.; Ghadami, M.; Windpassinger, C.; Gillessen-Kaesbach, G.; Tzschach, A.; Ahmed, I.; Mikhailov, A.; Stavropoulos, D. J.; Carter, M. T.; Keshavarz, S.; Ayub, M.; Najmabadi, H.; Liu, X.; Ropers, H. H.; Macheroux, P.; Vincent, J. B.: Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24 (20), S. 5697 - 5710 (2015)
  3. 3.
    Zeitschriftenartikel
    Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), S. 1308 - 1317 (2015)
  4. 4.
    Zeitschriftenartikel
    Franic, S.; Groen-Blokhuis, M. M.; Dolan, C. V.; Kattenberg, M. V.; Pool, R.; Xiao, X.; Scheet, P. A.; Ehli, E. A.; Davies, G. E.; van der Sluis, S. et al.; Abdellaoui, A.; Hansell, N. K.; Martin, N. G.; Hudziak, J. J.; van Beijsterveldt, C. E.; Swagerman, S. C.; Hulshoff Pol, H. E.; de Geus, E. J.; Bartels, M.; Ropers, H. H.; Hottenga, J. J.; Boomsma, D. I.: Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 23 (10), S. 1378 - 1383 (2015)
  5. 5.
    Zeitschriftenartikel
    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), S. 386 - 396 (2015)
  6. 6.
    Zeitschriftenartikel
    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), S. 179 - 184 (2015)
  7. 7.
    Zeitschriftenartikel
    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)
  8. 8.
    Zeitschriftenartikel
    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)
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