Publications of Hans H. 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), pp. 1787 - 1803 (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)

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 99 (1), pp. 187 - 192 (2021)

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), pp. 478 - 489 (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), pp. 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), pp. 1027 - 1039 (2019)

Beheshtian, M.; Fattahi, Z.; Fadaee, M.; Vazehan, R.; Jamali, P.; Parsimehr, E.; Kamgar, M.; Zonooz, M. F.; Mahdavi, S. S.; Kalhor, Z. et al.; Arzhangi, S.; Abedini, S. S.; Kermani , F. S.; Mojahedi, F.; Kalscheuer, V. M.; Ropers, H.-H.; Kariminejad , A.; Najmabadi, H.; Kahrizi, K.: Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics: an international journal of genetics in medicine 95 (6), pp. 641 - 739 (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), pp. 13 - 19 (2019)

Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), pp. 151 - 159 (2019)

Kazeminasab, S.; Taskiran, I.; Fattahi, Z.; Bazazzadegan, N.; Hosseini, M.; Rahimi, M.; Oladnabi, M.; Haddadi, M.; Celik, A.; Ropers, H. H. et al.; Najmabadi, H.; Kahrizi, K.: CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet 177 (8), pp. 691 - 699 (2018)

Fattahi, Z.; Sheikh, T. I.; Musante, L.; Rasheed, M.; Taskiran, I.; Harripaul, R.; Hu, H.; Kazeminasab, S.; Alam, M. R.; Hosseini, M. et al.; Larti, F.; Ghaderi, Z.; Celik, A.; Ayub, M.; Ansar, M.; Haddadi, M.; Wienker, T. F.; Ropers, H. H.; Kahrizi, K.; Vincent, J. B.; Najmabadi, H.: Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 27 (18), pp. 3177 - 3188 (2018)

Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C. et al.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.-H.; Delgado, M. R.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M. P.; Chung, W. K.; Wynn, J.; Rohena, L.; Bernardo, E.; Hamlin, D.; Faux, B. M.; Grange, D. K.; Manwaring, L.; Tolmie, J.; Joss, S.; Study, D. D. D.; Cobben, J. M.; Duijkers, F. A. M.; Goehringer, M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, A.; Stankiewicz, P.; Jentsch, T. H.; Gecz, J.; Field, M.; Kalscheuer, V. M.: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 23 (2), pp. 222 - 230 (2018)

Jensen, L. R.; Garrett, L.; Holter, S. M.; Rathkolb, B.; Racz, I.; Adler, T.; Prehn, C.; Hans, W.; Rozman, J.; Becker, L. et al.; Aguilar-Pimentel, J. A.; Puk, O.; Moreth, K.; Dopatka, M.; Walther, D. J.; von Bohlen Und Halbach, V.; Rath, M.; Delatycki, M.; Bert, B.; Fink, H.; Blumlein, K.; Ralser, M.; Van Dijck, A.; Kooy, F.; Stark, Z.; Muller, S.; Scherthan, H.; Gecz, J.; Wurst, W.; Wolf, E.; Zimmer, A.; Klingenspor, M.; Graw, J.; Klopstock, T.; Busch, D.; Adamski, J.; Fuchs, H.; Gailus-Durner, V.; de Angelis, M. H.; von Bohlen Und Halbach, O.; Ropers, H. H.; Kuss, A. W.: A mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis, S0925-4439(18)30497-6 (2018)

Ivanova, E. L.; Mau-Them, F. T.; Riazuddin, S.; Kahrizi, K.; Laugel, V.; Schaefer, E.; de Saint Martin, A.; Runge, K.; Iqbal, Z.; Spitz, M. A. et al.; Laura, M.; Drouot, N.; Gerard, B.; Deleuze, J. F.; de Brouwer, A. P. M.; Razzaq, A.; Dollfus, H.; Assir, M. Z.; Nitchke, P.; Hinckelmann, M. V.; Ropers, H. H.; Riazuddin, S.; Najmabadi, H.; van Bokhoven, H.; Chelly, J.: Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. The American Journal of Human Genetics 101 (3), pp. 428 - 440 (2017)

Musante, L.; Püttmann, L.; Kahrizi, K.; Garshasbi, M.; Hu, H.; Stehr, H.; Lipkowitz, B.; Otto, S.; Jensen, L. R.; Tzschach, A. et al.; Jamali, P.; Wienker, T. F.; Najmabadi, H.; Ropers, H. H.; Kuss, A. W.: Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Human Mutations 38 (6), pp. 621 - 636 (2017)

Ravindran, E.; Hu, H.; Yuzwa, S. A.; Hernandez-Miranda, L. R.; Kraemer, N.; Ninnemann, O.; Musante, L.; Boltshauser, E.; Schindler, D.; Hübner, A. et al.; Reinecker, H. C.; Ropers, H. H.; Birchmeier, C.; Miller, F. D.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 13 (4), e1006746 (2017)

Hu, H.; Hübner, C.; Lukacs, Z.; Musante, L.; Gill, E.; Wienker, T. F.; Ropers, H. H.; Knierim, E.; Schuelke, M.: Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics 25 (2), pp. 253 - 256 (2017)

Iqbal, Z.; Püttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M. Y.; Hu, H.; Wienker, T. F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C. et al.; Vissers, L. E.; de Brouwer, A. P.; Veltman, J. A.; Pfundt, R.; Najmabadi, H.; Ropers, H. H.; Riazuddin, S.; Kahrizi, K.; van Bokhoven, H.: Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), pp. 392 - 399 (2016)

Esmaeeli-Nieh, S.; Fenckova, M.; Porter, I. M.; Motazacker, M. M.; Nijhof, B.; Castells-Nobau, A.; Asztalos, Z.; Weissmann, R.; Behjati, F.; Tzschach, A. et al.; Felbor, U.; Scherthan, H.; Sayfati, S. M.; Ropers, H. H.; Kahrizi, K.; Najmabadi, H.; Swedlow, J. R.; Schenck, A.; Kuss, A. W.: BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 12 (5), e1006022 (2016)