Publikationen Prof. Dr. med. Anita Rauch

ZORA Publikationsliste

Publikationen

• Cichon, S., & Rauch, A. (2022). Medizinische Genetik – Vom Orchideenfach zur Schlüsseldisziplin : Mit dem Abschluss des Humangenomprojektes im Jahr 2003 wurden grosse Erwartungen an die Rolle der Genetik im medizinischen Alltag geweckt. Haben sich diese heute bereits erfüllt? Swiss Medical Forum, 2022, 11–13. https://doi.org/10.4414/smf.2022.08958
• Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Asadollahi, R., Zweier, M., Steindl, K., & Rauch, A. (2021). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics Genetics in Medicine, 23, 543–554. https://doi.org/10.1038/s41436-020-01011-x
• VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J. W., Kuzniecky, R., Hofstede, F. C., Steindl, K., Rauch, A., Lipson, M. H., & Bupp, C. P. (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome American Journal of Medical Genetics. Part A, 185, 3485–3493. https://doi.org/10.1002/ajmg.a.62473
• Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F. M., et al, German Competence Network for Congenital Heart Defects, et al, Steindl, K., & Rauch, A. (2021). Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot Genetics in Medicine, 23, 1952–1960. https://doi.org/10.1038/s41436-021-01212-y
• Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F. M., et al, German Competence Network for Congenital Heart Defects, et al, Steindl, K., & Rauch, A. (2021). Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot Genetics in Medicine, 23, 2013–2013. https://doi.org/10.1038/s41436-021-01279-7
• Krumm, L., Pozner, T., Kaindl, J., Regensburger, M., Günther, C., Turan, S., Asadollahi, R., Rauch, A., & Winner, B. (2021). Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in Stem Cell Research, 56, 1–6. https://doi.org/10.1016/j.scr.2021.102520
• Zanoni, P., Steindl, K., Sengupta, D., Joset, P., Bahr, A., Sticht, H., Lang-Muritano, M., et al, Zweier, M., Gozani, O., & Rauch, A. (2021). Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype Genetics in Medicine, 23, 1474–1483. https://doi.org/10.1038/s41436-021-01158-1
• Gogoll, L., Steindl, K., Joset, P., Zweier, M., Baumer Wolz, A., Gerth-Kahlert, C., Tutschek, B., & Rauch, A. (2021). Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature American Journal of Medical Genetics. Part A, 185, 2546–2560. https://doi.org/10.1002/ajmg.a.62351
• Parenti, I., Lehalle, D., Nava, C., Torti, E., et al, Undiagnosed Diseases Network, Friedman, J., Joset, P., Steindl, K., & Rauch, A. (2021). Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy Human Genetics, 140, 1109–1120. https://doi.org/10.1007/s00439-021-02283-2
• Ernst, M. E., Baugh, E. H., Thomas, A., Bier, L., Lippa, N., et al, Rauch, A., Joset, P., & Steindl, K. (2021). CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity Epilepsia, 62, e103–e109. https://doi.org/10.1111/epi.16931
• Collier, J. J., Guissart, C., Oláhová, M., Sasorith, S., Piron-Prunier, F., et al, Bahr, A., Azzarello-Burri, S., & Rauch, A. (2021). Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans New England Journal of Medicine, 384, 2406–2417. https://doi.org/10.1056/NEJMoa1915722
• Kummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp-Versteeg, M., Schepens, M., Man, C. C. O., Gilissen, C., Cho, M. T., McWalter, K., Sinnema, M., Wheless, J. W., Simon, M. E. H., Genetti, C. A., Casey, A. M., Terhal, P. A., van der Smagt, J. J., van Gassen, K. L. I., … et al. (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Molecular Psychiatry, 26, 2013–2024. https://doi.org/10.1038/s41380-020-0725-5
• Meng, L., Isohanni, P., Shao, Y., Graham, B. H., Hickey, S. E., Brooks, S., Suomalainen, A., Joset, P., Steindl, K., Rauch, A., Hackenberg, A., High, F. A., Armstrong-Javors, A., Mencacci, N. E., Gonzàlez-Latapi, P., Kamel, W. A., Al-Hashel, J. Y., Bustos, B. I., Hernandez, A. V., … et al. (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia Annals of Neurology, 89, 828–833. https://doi.org/10.1002/ana.26019
• Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., et al, Joset, P., Steindl, K., & Rauch, A. (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females American Journal of Human Genetics, 108, 502–516. https://doi.org/10.1016/j.ajhg.2021.01.015
• Harris, H. K., Nakayama, T., Lai, J., Zhao, B., et al, Asadollahi, R., Boonsawat, P., & Rauch, A. (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Genetics in Medicine, 1–13. https://doi.org/10.1038/s41436-021-01114-z
• Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., et al, & Rauch, A. (2021). DLG4-related synaptopathy: a new rare brain disorder Genetics in Medicine, 1–12. https://doi.org/10.1038/s41436-020-01075-9
• Lenaerts, L., Reynhout, S., Verbinnen, I., et al, Joset, P., Steindl, K., & Rauch, A. (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Genetics in Medicine, 23, 352–362. https://doi.org/10.1038/s41436-020-00981-2
• Schneeberger, P. E., von Elsner, L., Barker, E. L., Meinecke, P., Marquardt, I., Alawi, M., Steindl, K., Joset, P., Rauch, A., Zwijnenburg, P. J. G., Weiss, M. M., Merry, C. L. R., & Kutsche, K. (2020). Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities American Journal of Human Genetics, 107, 1044–1061. https://doi.org/10.1016/j.ajhg.2020.10.007
• Asadollahi, R., Britschgi, C., Joset, P., Oneda, B., Schindler, D., Meier, U. R., & Rauch, A. (2020). Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene) Molecular Genetics & Genomic Medicine, e1409. https://doi.org/10.1002/mgg3.1409
• Meerschaut, I., De Coninck, S., Steyaert, W., et al, & Rauch, A. (2020). A clinical scoring system for congenital contractural arachnodactyly Genetics in Medicine, 22, 124–131. https://doi.org/10.1038/s41436-019-0609-8

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