Publikationen Prof. Dr. med. Anita Rauch

ZORA Publication List

Publications

• Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A; et al; Rauch, Anita (2021). DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine:1-12.
• Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine, 23(2):352-362.
• Schneeberger, Pauline E; von Elsner, Leonie; Barker, Emma L; Meinecke, Peter; Marquardt, Iris; Alawi, Malik; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Zwijnenburg, Petra J G; Weiss, Marjan M; Merry, Catherine L R; Kutsche, Kerstin (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(6):1044-1061.
• Asadollahi, Reza; Britschgi, Christian; Joset, Pascal; Oneda, Beatrice; Schindler, Detlev; Meier, Urs R; Rauch, Anita (2020). Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene). Molecular Genetics & Genomic Medicine:e1409.
• Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; et al; Rauch, Anita (2020). A clinical scoring system for congenital contractural arachnodactyly. Genetics in Medicine, 22(1):124-131.
• Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino, Marcella; Guilmin Crepon, Sophie; Kaguelidou, Florentia; Gressens, Pierre; Verloes, Alain; Rauch, Anita; El Ghouzzi, Vincent; Drunat, Severine; Passemard, Sandrine (2020). CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Journal of Medical Genetics, 57(6):389-399.
• Jagannath, Vinita; Grünblatt, Edna; Theodoridou, Anastasia; Oneda, Beatrice; Roth, Alexander; Gerstenberg, Miriam; Franscini, Maurizia; Traber‐Walker, Nina; Correll, Christoph U; Heekeren, Karsten; Rössler, Wulf; Rauch, Anita; Walitza, Susanne (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(2):140-151.
• Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R; Williamson, Kathleen A; Jacobsen, Christina M; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E; Prasad, Rameshwar; Mondal, Uttam K; Reigstad, Hallvard M; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B; DiOrio, Nicole P; Prada, Rolando; Capri, Yline; et al (2020). Insight Into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology & Metabolism, 105(5):1538-1551.
• Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; et al; Rauch, Anita; Steindl, Katharina; Joset, Pascal (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry, 87(2):100-112.
• Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25:6.
• Rauch, Anita; Abt, Simone; Allemann, Samuel; Antonarakis, Stylianos E; Beernewinkel, Niko; Britschgi, Christian; Colomer-Lahiguera, Sara; Coukos, George; Eicher, Manuela; Fokstuen, Siv; Gallati, Sabina; Gerber-Grote, Andreas; Hemkens, Lars; Hersberger, Kurt E; Hunziker, Sabina; Kandalaft, Lana; Langewitz, Wolf; Meyer zu Schwabedissen, Henriette E; Michelien, Olivier; Müller, Marc; Peters, Solange; Probst-Hensch, Nicole; Szucs, Thomas (2019). Personalisierte Medizin: Grundlagen für die interprofessionelle Aus-, Weiter- und Fortbildung von Gesundheitsfachleuten. Swiss Academies. Communications, 14(6):1-134.
• Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?. Prenatal Diagnosis, 39(12):1136-1147.
• Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); et al; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.
• Hauer, Nadine N; Popp, Bernt; Taher, Leila; Vogl, Carina; et al; Rauch, Anita (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7):1061-1071.
• O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; et al; Joset, Pascal; Rauch, Anita; Steindl, Katharina (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 104(6):1210-1222.
• Zweier, Markus; Begemann, Anaïs; McWalter, Kirsty; Cho, Megan T; Abela, Lucia; et al; Deciphering Developmental Disorders (DDD) Study; Steindl, Katharina; Rauch, Anita (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(5):747-759.
• Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4):663-668.
• Rauch, Anita (2019). Genetik Chance und Dilemma. Schweizerische Ärztezeitung (SÄZ), 100(11):381-383.
• Niedrist, Dunja; Oneda, Beatrice; Rauch, Anita (2019). Präimplantationsdiagnostik in der Schweiz: Möglichkeiten und Probleme. Swiss Medical Forum, 2019(19):21-23.
• Popp, Bernt; Krumbiegel, Mandy; Grosch, Janina; Sommer, Annika; Uebe, Steffen; Kohl, Zacharias; Plötz, Sonja; Farrell, Michaela; Trautmann, Udo; Kraus, Cornelia; Ekici, Arif B; Asadollahi, Reza; Regensburger, Martin; Günther, Katharina; Rauch, Anita; Edenhofer, Frank; Winkler, Jürgen; Winner, Beate; Reis, André (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8:17201.

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