Publikationen Prof. Dr. med. Anita Rauch

ZORA Publikationsliste

Publikationen

• Higgins, R. G. (2018). Genetic architecture of linear localized scleroderma (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-164828
• Asadollahi, R., Strauss, J. E., Zenker, M., Beuing, O., Edvardson, S., Elpeleg, O., Strom, T. M., Joset, P., Niedrist, D., Otte, C., Oneda, B., Boonsawat, P., Azzarello-Burri, S., Bartholdi, D., Papik, M., Zweier, M., Haas, C., Ekici, A. B., Baumer, A., … Rauch, A. (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling European Journal of Human Genetics, 26, 197–209. https://doi.org/10.1038/s41431-017-0019-9
• Tan, T. Y., Gonzaga-Jauregui, C., Bhoj, E. J., et al, Steindl, K., Joset, P., & Rauch, A. (2017). Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions American Journal of Human Genetics, 101, 985–994. https://doi.org/10.1016/j.ajhg.2017.10.006
• Oneda, B., & Rauch, A. (2017). Microarrays in prenatal diagnosis Best Practice & Research. Clinical Obstetrics & Gynaecology, 42, 53–63. https://doi.org/10.1016/j.bpobgyn.2017.01.003
• Lehalle, D., Mosca-Boidron, A.-L., Begtrup, A., Boute-Benejean, O., Charles, P., Cho, M. T., Clarkson, A., Devinsky, O., Duffourd, Y., Duplomb-Jego, L., Gérard, B., Jacquette, A., Kuentz, P., Masurel-Paulet, A., McDougall, C., Moutton, S., Olivié, H., Park, S.-M., Rauch, A., … et al. (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability Journal of Medical Genetics, 54, 479–488. https://doi.org/10.1136/jmedgenet-2016-104468
• Zweier, M., Peippo, M. M., Pöyhönen, M., Kääriäinen, H., Begemann, A., Joset, P., Oneda, B., & Rauch, A. (2017). The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B American Journal of Medical Genetics. Part A, 173, 1440–1443. https://doi.org/10.1002/ajmg.a.38143
• Azzarello-Burri, S., & Rauch, A. (2017). Medizinische Genetik im ärztlichen Alltag Primary and Hospital Care, 17, 78–80. https://doi.org/10.4414/phc-d.2017.01390
• Azzarello-Burri, S. M., Niedrist, D., & Rauch, A. (2016). Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond Swiss Medical Forum, 16, 4–6. https://doi.org/10.4414/smf.2016.02535
• Rauch, P. J., Müllhaupt, B., Biedermann, L., Manz, M. G., Ruschitzka, F., Flammer, A. J., Segerer, S., Mohebbi, N., Jung, H. H., Moch, H., Ikenberg, K., Aguzzi, A., Nuvolone, M., Distler, O., Rauch, A., Fehr, T., & Gerber, B. (2014). Systemische Amyloidosen Swiss Medical Forum, 14, 943–948. https://doi.org/10.4414/smf.2014.02101
• Rauch, A. (2014). Exome sequencing in unspecific intellectual disability and rare disorders Molecular Cytogenetics, 7, I26. https://doi.org/10.1186/1755-8166-7-S1-I26
• Pajarola, S., Bachmann, R., Niedrist, D., & Rauch, A. (2013). Grundlagen der medizinischen Genetik Praxis, 102, 1457–1465. https://doi.org/10.1024/1661-8157/a001487
• Otte, C., & Rauch, A. (2013). Mentale Retardierung – eine häufige Fragestellung in der medizinischen Genetik Praxis, 102, 1467–1473. https://doi.org/10.1024/1661-8157/a001488
• Hofmann, K., Zweier, M., Sticht, H., Zweier, C., Wittmann, W., Hoyer, J., Uebe, S., van Haeringen, A., Thiel, C. T., Ekici, A. B., Reis, A., & Rauch, A. (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature American Journal of Medical Genetics. Part A, 161A, 2880–2889. https://doi.org/10.1002/ajmg.a.36250
• Soemedi, R., Wilson, I. J., Bentham, J., Darlay, R., Töpf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., Blue, G. M., Breckpot, J., Hellens, S., Zwolinkski, S., Glen, E., Mamasoula, C., Rahman, T. J., Hall, D., Rauch, A., … et al. (2012). Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease American Journal of Human Genetics, 91, 489–501. https://doi.org/10.1016/j.ajhg.2012.08.003
• Rauch, A. (2012). Next-Generation-Sequenzierung. Ein Quantensprung in der Aufklärung genetischer Erkrankungen Swiss Medical Forum, 12, 44–46. https://doi.org/10.4414/smf.2012.07739
• Rauch, A., & et al (Eds.). (2012). Molecular Syndromology Karger. https://doi.org/10.1159/issn.1661-8769
• Rauch, A. (2010). Editorial Molecular Syndromology, 1, 1. https://doi.org/10.1159/000280180
• Hennies, H. C., Rauch, A., Seifert, W., Schumi, C., Moser, E., Al-Taji, E., Tariverdian, G., Chrzanowska, K. h, Krajewska-Walasek, M., Rajab, A., Giugliani, R., Neumann, T. e, Eckl, K. m, Karbasiyan, M., Reis, A., & Horn, D. (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome American Journal of Human Genetics, 75, 138–145. https://doi.org/10.1086/422219
• Zenker, M., Rauch, A., Winterpacht, A., Tagariello, A., Kraus, C., Rupprecht, T., Sticht, H., & Reis, A. (2004). A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts American Journal of Human Genetics, 74, 731–737. https://doi.org/10.1086/383094
• Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., Tietze, H.-U., Doerr, H.-G., Hofbeck, M., Singer, H., Reis, A., & Rauch, A. (2004). Genotype-phenotype correlations in Noonan syndrome Journal of Pediatrics, 144, 368–374. https://doi.org/10.1016/j.jpeds.2003.11.032

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