Publikationen Prof. Dr. med. Anita Rauch

ZORA Publication List

Publications

• Filges, Isabel; Bartholdi, Deborah; Cichon, Sven; Niedrist, Dunja; Porret, Naomi A; Rauch, Anita; Saller, Elisabeth; von Känel, Thomas; Fokstuen, Siv (2018). Entwicklung der genetischen und genomischen Medizin in der Schweiz. Schweizerische Ärztezeitung (SÄZ), 99(41):1418-1420.
• Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; et al; Rauch, Anita (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9):965-975.
• Nahorski, Michael S; Maddirevula, Sateesh; Ishimura, Ryosuke; et al; Begemann, Anaïs; Rauch, Anita (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain: a Journal of Neurology, 141(7):1934-1945.
• Hauer, Nadine N; Popp, Bernt; Schoeller, Eva; et al; Rauch, Anita (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6):630-638.
• Pasutto, Francesca; Flinter, Frances; Rauch, Anita; Reis, André (2018). Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. American Journal of Medical Genetics. Part A, 176(1):134-138.
• Higgins, Rebecca Geraldine. Genetic architecture of linear localized scleroderma. 2018, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
• Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26(2):197-209.
• Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; et al; Steindl, Katharina; Joset, Pascal; Rauch, Anita (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(6):985-994.
• Oneda, Beatrice; Rauch, Anita (2017). Microarrays in prenatal diagnosis. Best Practice & Research. Clinical Obstetrics & Gynaecology, 42:53-63.
• Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sébastien; Olivié, Hilde; Park, Soo-Mi; Rauch, Anita; Revencu, Nicole; Rivière, Jean-Baptiste; Rubin, Karol; Simonic, Ingrid; Shears, Deborah J; Smol, Thomas; Taylor Tavares, Ana Lisa; Terhal, Paulien; Thevenon, Julien; Van Gassen, Koen; Vincent-Delorme, Catherine; et al (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7):479-488.
• Zweier, Markus; Peippo, Maarit M; Pöyhönen, Minna; Kääriäinen, Helena; Begemann, Anaïs; Joset, Pascal; Oneda, Beatrice; Rauch, Anita (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(5):1440-1443.
• Azzarello-Burri, Silvia; Rauch, Anita (2017). Medizinische Genetik im ärztlichen Alltag. Primary and Hospital Care, 17(4):78-80.
• Azzarello-Burri, Silvia Miranda; Niedrist, Dunja; Rauch, Anita (2016). Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond. Swiss Medical Forum, 16(01):4-6.
• Rauch, Philipp J; Müllhaupt, Beat; Biedermann, Luc; Manz, Markus G; Ruschitzka, Frank; Flammer, Andreas J; Segerer, Stephan; Mohebbi, Nilufar; Jung, Hans H; Moch, Holger; Ikenberg, Kristian; Aguzzi, Adriano; Nuvolone, Mario; Distler, Oliver; Rauch, Anita; Fehr, Thomas; Gerber, Bernhard (2014). Systemische Amyloidosen. Swiss Medical Forum, 14(50):943-948.
• Rauch, Anita (2014). Exome sequencing in unspecific intellectual disability and rare disorders. Molecular Cytogenetics, 7(Suppl 1 Pr):I26.
• Otte, Christine; Rauch, Anita (2013). Mentale Retardierung – eine häufige Fragestellung in der medizinischen Genetik. Praxis, 102(24):1467-1473.
• Pajarola, Sandra; Bachmann, Ruxandra; Niedrist, Dunja; Rauch, Anita (2013). Grundlagen der medizinischen Genetik. Praxis, 102(24):1457-1465.
• Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T; Ekici, Arif B; Reis, André; Rauch, Anita (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature. American Journal of Medical Genetics. Part A, 161A(11):2880-2889.
• Soemedi, Rachel; Wilson, Ian J; Bentham, Jamie; Darlay, Rebecca; Töpf, Ana; Zelenika, Diana; Cosgrove, Catherine; Setchfield, Kerry; Thornborough, Chris; Granados-Riveron, Javier; Blue, Gillian M; Breckpot, Jeroen; Hellens, Stephen; Zwolinkski, Simon; Glen, Elise; Mamasoula, Chrysovalanto; Rahman, Thahira J; Hall, Darroch; Rauch, Anita; Devriendt, Koenraad; Gewillig, Marc; O'Sullivan, John; Winlaw, David S; Bu'lock, Frances; Brook, J David; Bhattacharya, Shoumo; Lathrop, Mark; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith 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(3):489-501.
• Rauch, Anita (2012). Next-Generation-Sequenzierung. Ein Quantensprung in der Aufklärung genetischer Erkrankungen. Swiss Medical Forum, 12(03):44-46.

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