Publications of Vanessa Suckow

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)

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)

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)

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)

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)

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)

Alber, M.; Kalscheuer, V. M.; Marco, E.; Sherr, E.; Lesca, G.; Till, M.; Gradek, G.; Wiesener, A.; Korenke, C.; Mercier, S. et al.; Becker, F.; Yamamoto, T.; Scherer, S. W.; Marshall, C. R.; Walker, S.; Dutta, U. R.; Dalal, A. B.; Suckow, V.; Jamali, P.; Kahrizi, K.; Najmabadi, H.; Minassian, B. A.: ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 3 (3), e148 (2017)

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), pp. 1308 - 1317 (2015)

Hu, H.; Suckow, V.; Musante, L.; Roggenkamp, V.; Kraemer, N.; Ropers, H. H.; Hübner, C.; Wienker, T. F.; Kaindl, A. M.: Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 13 (10), pp. 1650 - 1651 (2014)

Hucho, T.; Suckow, V.; Joseph, E. K.; Kuhn, J.; Schmoranzer, J.; Dina, O. A.; Chen, X.; Karst, M.; Bernateck, M.; Levine, J. D. et al.; Ropers, H.-H.: Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry: official journal of the International Society for Neurochemistry 123 (4), pp. 589 - 601 (2012)

Kuhn, J.; Dina, O. A.; Goswami, C.; Suckow, V.; Levine, J. D.; Hucho, T.: GPR30 estrogen receptor agonists induce mechanical hyperalgesia in the rat. European Journal of Neuroscience 27 (7), pp. 1700 - 1709 (2008)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics Part A 132A (1), pp. 1 - 7 (2006)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics Part A 132A (1), pp. 1 - 7 (2006)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)

So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V. M.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B. et al.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J.J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, F.; Opitz, J. M.; Cox, T.; Schweiger, S.: Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A 132 (1), pp. 1 - 7 (2005)

Winter, J.; Lehmann, T.; Krauß, S.; Trockenbacher, A.; Kijas, Z.; Foerster, J.; Suckow, V.; Yaspo, M.-L.; Kulozik, A.; Kalscheuer, V. M. et al.; Schneider, R.; Schweiger, S.: Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 114 (6), pp. 541 - 552 (2004)

Winter, J.; Lehmann, T.; Krauß, S.; Trockenbacher, A.; Kijas, Z.; Foerster, J.; Suckow, V.; Yaspo, M.-L.; Kulozik, A.; Kalscheuer, V. M. et al.; Schneider, R.; Schweiger, S.: Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 114 (6), pp. 541 - 552 (2004)

Zeitz, C.; Scherthan, H.; Freier, S.; Feil, S.; Suckow, V.; Schweiger, S.; Berger, W.: NYX (Nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Investigative Ophthalmology & Visual Science 44 (10), pp. 4184 - 4191 (2003)

Winter, J.; Lehmann, T.; Suckow, V.; Kijas, Z.; Kulozik, A.; Kalscheuer, V.; Hamel, B.; Devriendt, K.; Opitz, J.; Lenzner, S. et al.; Ropers, H.-H.; Schweiger, S.: Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Human Genetics 112 (3), pp. 249 - 254 (2003)

Raderschall, E.; Stout, K.; Freier, S.; Suckow, V.; Schweiger, S.; Haaf, T.: Elevated Levels of Rad51 Recombination Protein in Tumor Cells. Cancer Research 62 (1), pp. 219 - 225 (2002)