Publikationen Prof. Dr. med. Anita Rauch

ZORA Publikationsliste

Publikationen

• Nasser, H., Vera, L., Elmaleh-Bergès, M., Steindl, K., Letard, P., Teissier, N., Ernault, A., Guimiot, F., Afenjar, A., Moutard, M. L., Héron, D., Alembik, Y., Momtchilova, M., Milani, P., Kubis, N., Pouvreau, N., Zollino, M., Guilmin Crepon, S., Kaguelidou, F., … Passemard, S. (2020). CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects Journal of Medical Genetics, 57, 389–399. https://doi.org/10.1136/jmedgenet-2019-106474
• Jagannath, V., Grünblatt, E., Theodoridou, A., Oneda, B., Roth, A., Gerstenberg, M., Franscini, M., Traber‐Walker, N., Correll, C. U., Heekeren, K., Rössler, W., Rauch, A., & Walitza, S. (2020). Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 183, 140–151. https://doi.org/10.1002/ajmg.b.32770
• Delaney, A., Volochayev, R., Meader, B., Lee, J., Almpani, K., Noukelak, G. Y., Henkind, J., Chalmers, L., Law, J. R., Williamson, K. A., Jacobsen, C. M., Buitrago, T. P., Perez, O., Cho, C.-H., Kaindl, A., Rauch, A., Steindl, K., Garcia, J. E., Russell, B. E., … et al. (2020). Insight Into the ontogeny of GnRH neurons from patients born without a nose Journal of Clinical Endocrinology & Metabolism, 105, 1538–1551. https://doi.org/10.1210/clinem/dgaa065
• Johnson, B. V., Kumar, R., Oishi, S., et al, Rauch, A., Steindl, K., & Joset, P. (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Biological Psychiatry, 87, 100–112. https://doi.org/10.1016/j.biopsych.2019.05.028
• Begemann, A., Acuña, M. A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R., Hackenberg, A., Abela, L., Plecko, B., Kroell-Seger, J., Baumer, A., Yamakawa, K., Inoue, Y., Asadollahi, R., Sticht, H., Zeilhofer, H. U., & Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes Molecular Medicine, 25, 6. https://doi.org/10.1186/s10020-019-0073-6
• Rauch, A., Abt, S., Allemann, S., Antonarakis, S. E., Beernewinkel, N., Britschgi, C., Colomer-Lahiguera, S., Coukos, G., Eicher, M., Fokstuen, S., Gallati, S., Gerber-Grote, A., Hemkens, L., Hersberger, K. E., Hunziker, S., Kandalaft, L., Langewitz, W., Meyer zu Schwabedissen, H. E., Michelien, O., … Szucs, T. (2019). Personalisierte Medizin: Grundlagen für die interprofessionelle Aus-, Weiter- und Fortbildung von Gesundheitsfachleuten Swiss Academies Communications, 14, 1–134. https://doi.org/10.5281/zenodo.3265194
• Vasileiou, G., Hoyer, J., Thiel, C. T., Schaefer, J., Zapke, M., Krumbiegel, M., Kraus, C., Zweier, M., Uebe, S., Ekici, A. B., Schneider, M., Wiesener, M., Rauch, A., Faschingbauer, F., Reis, A., Zweier, C., & Popp, B. (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenatal Diagnosis, 39, 1136–1147. https://doi.org/10.1002/pd.5556
• Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L., Azzarello-Burri, S., Sheth, F., Datar, C., Verma, I. C., Puri, R. D., Zollino, M., Bachmann-Gagescu, R., Niedrist, D., Papik, M., Figueiro-Silva, J., Masood, R., Zweier, M., Kraemer, D., Lincoln, S., … Rauch, A. (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly Genetics in Medicine, 21, 2043–2058. https://doi.org/10.1038/s41436-019-0464-7
• Hauer, N. N., Popp, B., Taher, L., Vogl, C., et al, & Rauch, A. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature European Journal of Human Genetics, 27, 1061–1071. https://doi.org/10.1038/s41431-019-0362-0
• O’Donnell-Luria, A. H., Pais, L. S., Faundes, V., et al, Joset, P., Rauch, A., & Steindl, K. (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy American Journal of Human Genetics, 104, 1210–1222. https://doi.org/10.1016/j.ajhg.2019.03.021
• Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., et al, Deciphering Developmental Disorders (DDD) Study, Steindl, K., & Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures European Journal of Human Genetics, 27, 747–759. https://doi.org/10.1038/s41431-018-0331-z
• Vuillaume, M.-L., Moizard, M.-P., Baumer, A., Cottereau, E., Brioude, F., Rauch, A., & Toutain, A. (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS) European Journal of Human Genetics, 27, 663–668. https://doi.org/10.1038/s41431-019-0339-z
• Rauch, A. (2019). Genetik Chance und Dilemma Schweizerische Ärztezeitung (SÄZ), 100, 381–383. https://doi.org/10.4414/saez.2019.17638
• Niedrist, D., Oneda, B., & Rauch, A. (2019). Präimplantationsdiagnostik in der Schweiz: Möglichkeiten und Probleme Swiss Medical Forum, 2019, 21–23. https://doi.org/10.4414/smf.2019.08030
• Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z., Plötz, S., Farrell, M., Trautmann, U., Kraus, C., Ekici, A. B., Asadollahi, R., Regensburger, M., Günther, K., Rauch, A., Edenhofer, F., Winkler, J., Winner, B., & Reis, A. (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Scientific Reports, 8, 17201. https://doi.org/10.1038/s41598-018-35506-0
• Filges, I., Bartholdi, D., Cichon, S., Niedrist, D., Porret, N. A., Rauch, A., Saller, E., von Känel, T., & Fokstuen, S. (2018). Entwicklung der genetischen und genomischen Medizin in der Schweiz Schweizerische Ärztezeitung (SÄZ), 99, 1418–1420. https://doi.org/10.4414/saez.2018.17185
• Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., et al, & Rauch, A. (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care Genetics in Medicine, 20, 965–975. https://doi.org/10.1038/gim.2017.221
• Nahorski, M. S., Maddirevula, S., Ishimura, R., et al, Begemann, A., & Rauch, A. (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development Brain : A Journal of Neurology, 141, 1934–1945. https://doi.org/10.1093/brain/awy135
• Hauer, N. N., Popp, B., Schoeller, E., et al, & Rauch, A. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Genetics in Medicine, 20, 630–638. https://doi.org/10.1038/gim.2017.159
• Pasutto, F., Flinter, F., Rauch, A., & Reis, A. (2018). Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome American Journal of Medical Genetics. Part A, 176, 134–138. https://doi.org/10.1002/ajmg.a.38529

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