Publications of Vera M. Kalscheuer

Courraud, J.; Engel, C.; Quartier, A.; Drouot, N.; Houessou, U.; Plassard, D.; Sorlin, A.; Brischoux-Boucher, E.; Gouy, E.; Van Maldergem, L. et al.; Rossi, M.; Lesca, G.; Edery, P.; Putoux, A.; Bilan, F.; Gilbert-Dussardier, B.; Atallah, I.; Kalscheuer, V. M.; Mandel, J.-L.; Piton, A.: Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry 29 (2), pp. 287 - 296 (2023)

Huang, X.; Henck, J.; Qiu, C.; Sreenivasan, V. K. A.; Balachandran, S.; Amarie, O. V.; de Angelis, M. H.; Behncke, R. Y.; Chan, W.-L.; Despang, A. et al.; Dickel, D. E.; Duran, M.; Feuchtinger, A.; Fuchs, H.; Gailus-Durner, V.; Haag, N.; Hägerling, R.; Hansmeier, N.; Hennig, F.; Marshall, C.; Rajderkar, S.; Ringel, A.; Robson, M. I.; Saunders, L. M.; da Silva-Buttkus, P.; Spielmann, N.; Srivatsan, S. R.; Ulferts, S.; Wittler, L.; Zhu, Y.; Kalscheuer, V. M.; Ibrahim, D. M.; Kurth, I.; Kornak, U.; Visel, A.; Pennacchio, L. A.; Beier, D. R.; Trapnell, C.; Cao, J.; Shendure, J.; Spielmann, M.: Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 623 (7988), pp. 772 - 781 (2023)

Mensah, M. A.; Niskanen, H.; Magalhães, A. P.; Basu, S.; Kircher, M.; Sczakiel, H. L.; Reiter, A. M. V.; Elsner, J.; Meinecke, P.; Biskup, S. et al.; Chung, B. H. Y.; Dombrowsky, G.; Eckmann-Scholz, C.; Hitz, M. P.; Hoischen, A.; Holterhus, P.-M.; Hülsemann, W.; Kahrizi, K.; Kalscheuer, V. M.; Kan, A.; Krumbiegel, M.; Kurth, I.; Leubner, J.; Longardt, A. C.; Moritz, J. D.; Najmabadi, H.; Skipalova, K.; Snijders Blok, L.; Tzschach, A.; Wiedersberg, E.; Zenker, M.; Garcia-Cabau, C.; Buschow, R.; Salvatella, X.; Kraushar, M. L.; Mundlos, S.; Caliebe, A.; Spielmann, M.; Horn, D.; Hnisz, D.: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948), pp. 564 - 571 (2023)

Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28, pp. 668 - 697 (2023)

Meziane, H.; Birling, M.-C.; Wendling, O.; Leblanc, S.; Dubos, A.; Selloum , M.; Pavlovic, G.; Sorg, T.; Kalscheuer, V. M.; Billuart, P. et al.; Laumonnier, F.; Chelly, J.; van Bokhoven , H.; Herault, Y.: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12), 3148 (2022)

Leitão, E.; Schröder, C.; Parenti, I.; Dalle, C.; Rastetter, A.; Kühnel, T.; Kuechler, A.; Kaya, S.; Gérard, B.; Schaefer, E. et al.; Nava, C.; Drouot, N.; Engel, C.; Piard, J.; Duban-Bedu1, B.; Villard, L.; Stegmann, A. P. A.; Vanhoutte, E. K.; Verdonschot, J. A. J.; Kaiser, F. J.; Mau-Them, F. T.; Scala, M.; Striano, P.; Frints, S. G. M.; Argilli, E.; Sherr, E. H.; Elder, F.; Buratti, J.; Keren, B.; Mignot, C.; Héron, D.; Mandel, J.-L.; Gecz, J.; Kalscheuer, V. M.; Horsthemke, B.; Piton, A.; Depienne, C.: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 13 (1), 6570 (2022)

Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13 (1), 6470 (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)

Kotzaeridou, U.; Young-Baird, S. K.; Suckow, V.; Thornburg, A. G.; Wagner, M.; Harting, I.; Christ, S.; Strom, T.; Dever, T. E.; Kalscheuer, V. M.: Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 98 (5), pp. 507 - 514 (2020)

Grozdanov, P. N.; Masoumzadeh, E.; Kalscheuer, V. M.; Bienvenu, T.; Billuart, P.; Delrue, M.-A.; Latham, M. P.; MacDonald, C. C.: A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 48 (17), pp. 9804 - 9821 (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)

Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)

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)

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)

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)

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, 10730 (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)

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, 12:60 (2019)

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)