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

Petit, F.; Longoni, M.; Wells, J.; Maser, R. S.; Bogenschutz, E. L.; Dysart, M. J.; Contreras, H. T. M.; Frénois, F.; Pober, B. R.; Clark, R. D. et al.; Giampietro, P. F.; Ropers, H. H.; Hu, H.; Loscertales , M. ....; High, F. A.: PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. The American Journal of Human Genetics 110 (10), S. 1787 - 1803 (2023)

Stellmach, C.; Sass, J.; Auber, B.; Boeker, M.; Wienker, T. F.; Heidel, A. J.; Benary, M.; Schumacher, S.; Ossowski, S.; Klauschen, F. et al.; Möller , Y.; Schmutzler, R.; Ustjanzew, A.; Werner, P.; Tomczak, A.; Hölter, T.; Thun, S.: Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide. Journal of the American Medical Informatics Association, ocad061 (2023)

Ropers, H.-H.; van Karnebeek, C. D.: Rare diseases: human genome research is coming home. Cold Spring Harbor Molecular Case Studies 8, a006210 (2022)

Grimm, T.; Garshasbi, M.; Puettmann, L.; Chen, W.; Ullmann, R.; Müller-Myhsok, B.; Klopocki, E.; Herbst, L.; Haug, J.; Jensen, L. R. et al.; Fischer, C.; Nöthen, M.; Ludwig, K.; Warnke, A.; Ott, J.; Schulte-Körne, G.; Ropers, H.-H.; Kuss, A. W.: A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie 48 (6), S. 478 - 489 (2020)

Beheshtian, M.; Akhtarkhavari, T.; Mehvari, S.; Mohseni, M.; Fattahi, Z.; Abedini, S. S.; Arzhangi , S.; Fadaee, M.; Jamali , P.; Najafipour, R. et al.; Kalscheuer, V. M.; Hu, H.; Ropers, H.-H.; Najmabadi, H.; Kahrizi, K.: Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 2020, S. 1 - 6 (2020)

Mehvari, S.; Larti, F.; Hu, H.; Fattahi, Z.; Beheshtian, M.; Abedini, S. S.; Arzhangi, S.; Ropers, H.-H.; Kalscheuer, V. M.; Auld, D. et al.; Kahrizi, K.; Riazalhosseini, Y.; Najmabadi, H.: Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 8 (10), e1418 (2020)

Frints, S. G. M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; Hickey, S. E.; Kammoun, M.; Gripp, K. W. et al.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B. J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D. C.; van Roozendaal, K. E. P.; Hu, H.; Haas, S. A.; Ropers, H. H.; Murray, L.; Haan, E.; Shaw, M.; Carroll, R.; Friend, K.; Liebelt, J.; Hobson, L.; De Rademaeker, M.; Geraedts, J.; Fryns, J.-P.; Vermeesch, J.; Raynaud, M.; Riess, O.; Gribnau, J.; Katsanis, N.; Devriendt, K.; Bauer, P.; Gecz, J.; Golzio, C.; Gontan, C.; Kalscheuer, V. M.: Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 24 (11), S. 1748 - 1768 (2019)

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), S. 1027 - 1039 (2019)

Broder, F.; Marcus, S.; Junge, O.; Gundlach, S.; Ellinghaus, D.; Pfeufer, A.; Bettecken, T.; Siddiqui, R.; Franke, A.; Wienker, T. F. et al.; Hoeppner, M. P.; Krawczak, M.: VarWatch-A stand-alone software tool for variant matching. PLoS One 14 (4), e0215618 (2019)

Hosseini, M.; Fattahi, Z.; Abedini, S. S.; Hu, H.; Ropers, H. H.; Kalscheuer, V. M.; Najmabadi, H.; Kahrizi, K.: GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), S. 13 - 19 (2019)