Max Planck Publications of Kalscheuer Lab

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (10)

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Frints, S. G. M.; Hennig, F.; Colombo, R.; Jacquemont, S.; Terhal, P.; Zimmerman, H. H.; Hunt, D.; Mendelsohn, B. A.; Kordaß, U.; Webster, R. et al.; Sinnema, M.; Abdul‐Rahman, O.; Suckow, V.; Fernández‐Jaén, A.; van Roozendaal, K.; Stevens, S. J. C.; Macville, M. V. E.; Al‐Nasiry, S.; van Gassen, K.; Utzig, N.; Koudijs, S. M.; McGregor, L.; Maas, S. M.; Baralle, D.; Dixit, A.; Wieacker, P.; Lee, M.; Lee, A. S.; Engle, E. C.; Houge, G.; Velasco, D.; Hennekam, R. C.; Hirata, H.; Kalscheuer, V. M.: Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 40 (12), pp. 2270 - 2285 (2019)
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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)
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Nazaryan-Petersen, L.; Oliveira, I. R.; Mehrjouy, M. M.; Mendez, J. M. M.; Bak, M.; Bugge, M.; Kalscheuer, V. M.; Bache, I.; Hancks, D. C.; Tommerup, N.: Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation 40 (8), pp. 1057 - 1062 (2019)
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Gudmundsson, S.; Wilbe, M.; Filipek-Górniok, B.; Molin, A.-M.; Ekvall, S.; Johansson, J.; Allalou, A.; Gylje, H.; Kalscheuer, V. M.; Ledin, J. et al.; Annerén, G.; Bondeson, M.-L.: TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 9 (1), Article 10730 (2019)
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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)
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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)
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Chiou, T. T.; Long, P.; Schumann-Gillett, A.; Kanamarlapudi, V.; Haas, S. A.; Harvey, K.; O'Mara, M. L.; De Blas, A. L.; Kalscheuer, V. M.; Harvey, R. J.: Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 12, Article 60 (2019)
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Khayat, W.; Hackett , A.; Shaw, M.; Ilie , A.; Dudding-Byth , T.; Kalscheuer, V. M.; Christie , L.; Corbett , M. A.; Juusola , J.; Friend, K. L. et al.; Kirmse , B. M.; Gecz , J.; Field, M.; Orlowski, J.: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 28 (4), pp. 598 - 614 (2019)
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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)
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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)
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