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Meier-Abt, Fabienne; Lu, Junyan; Cannizzaro, Ester; Pohly, Marcel F; Kummer, Sandra; Pfammatter, Sibylle; Kunz, Laura; Collins, Ben C; Nadeu, Ferran; Lee, Kwang S; Xue, Peng; Gwerder, Myriam; Roiss, Michael; Hüllein, Jennifer; Scheinost, Sebastian; Dietrich, Sascha; Campo, Elias; Huber, Wolfgang; Aebersold, Ruedi; Zenz, Thorsten (2021). The Protein Landscape of Chronic Lymphocytic Leukemia (CLL). Blood, 138(24):2514-2525.
Bättig, Linda; Rosch, Richard Ewald; Steindl, Katharina; Bürki, Sarah Elisabeth; Ramantani, Georgia (2021). Sotos syndrome and the added value of genetic workup in epilepsy surgery. Epilepsia Open, 6(4):793-794.
Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Caraffi, Stefano G; Ivanovski, Ivan; et al (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular Cell, 81(22):4663-4676.e8.
Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular Cell, 81(22):4757.
Malhis, Marwa; Kaniyappan, Senthilvelrajan; Aillaud, Isabelle; Chandupatla, Ram Reddy; Ramirez, Lisa Marie; Zweckstetter, Markus; Horn, Anselm H C; Mandelkow, Eckhard; Sticht, Heinrich; Funke, Susanne Aileen (2021). Potent Tau Aggregation Inhibitor D-Peptides Selected against Tau-Repeat 2 Using Mirror Image Phage Display. Chembiochem, 22(21):3049-3059.
Ricci, Emilia; Fetta, Anna; Garavelli, Livia; Caraffi, Stefano; Ivanovski, Ivan; et al (2021). Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy & Behavior, 124:108315.
VanSickle, Elizabeth A; Michael, Julianne; Bachmann, André S; Rajasekaran, Surender; Prokop, Jeremy W; Kuzniecky, Ruben; Hofstede, Floris C; Steindl, Katharina; Rauch, Anita; Lipson, Mark H; Bupp, Caleb P (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American Journal of Medical Genetics. Part A, 185(11):3485-3493.
Condoluci, Adalgisa; Théaudin, Marie; Schwotzer, Rahel; Pazhenkottil, Aju P; Arosio, Paolo; Averaimo, Manuela; Bacher, Ulrike; Bode, Peter; Cavalli, Andrea; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stephan; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Gerull, Sabine; Heimgartner, Raphael; Hübers, Annemarie; Jung, Hans H; Kessler, Chiara; Knöpfel, Raphael; Laptseva, Natallia; Magini, Giulia; Manka, Robert; Mazzucchelli, Luca; Meyer, Martin; Mihaylova, Violeta; Monney, Pierre; Mylonas, Alessio; Nkoulou, René; Pabst, Thomas; Pfister, Otmar; Rüfer, Axel; Schmidt, Adrian; Seeger, Harald; Stämpfli, Simon F; Stirnimann, Guido; Suter, Thomas; Treglia, Giorgio; Tzankov, Alexandar; Vetter, Friederike; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard (2021). Management of transthyretin amyloidosis. Swiss Medical Weekly, 151:w30053.
Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):2013.
Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):1952-1960.
Stoll, Susanna; Unger, Sheila; Azzarello-Burri, Silvia; Chappuis, Pierre; Graffeo, Rossella; Pichert, Gabriella; Röthlisberger, Benno; Taban, Francois; Riniker, Salome (2021). Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer. Swiss Medical Weekly, 151:w30038.
Corrêa, Thiago; Feltes, Bruno César; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Network-based analysis using chromosomal microdeletion syndromes as a model. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 187(3):337-348.
Tran, Christel; Turolla, Licia; Ballhausen, Diana; Buros, Sandrine Cornaz; Teav, Tony; Gallart-Ayala, Hector; Ivanisevic, Julijana; Faouzi, Mohamed; Lefeber, Dirk J; Ivanovski, Ivan; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Garavelli, Livia; Superti-Furga, Andrea (2021). The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects. Molecular Genetics and Metabolism Reports, 28:100777.
Krumm, Laura; Pozner, Tatyana; Kaindl, Johanna; Regensburger, Martin; Günther, Claudia; Turan, Soeren; Asadollahi, Reza; Rauch, Anita; Winner, Beate (2021). Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56:1-6.
Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer Wolz, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita (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(8):2546-2560.
Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Kottke, Raimund; Weber, Achim; Griese, Matthias; Pachlopnik Schmid, Jana; et al (2021). Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. Journal of Allergy and Clinical Immunology, 148(2):381-393.
Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; et al; Zweier, Markus; Gozani, Or; Rauch, Anita (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(8):1474-1483.
Cardenas-Rodriguez, Magdalena; Austin-Tse, Christina; Bergboer, Judith G M; Molinari, Elisa; Sugano, Yuya; Bachmann-Gagescu, Ruxandra; Sayer, John A; Drummond, Iain A (2021). Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science, 134(14):jcs258568.
Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. arXiv.org 452166, University of Zurich.
Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; et al; Rauch, Anita; Joset, Pascal; Steindl, Katharina (2021). CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia, 62(7):e103-e109.
Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; et al; Undiagnosed Diseases Network; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human Genetics, 140(7):1109-1120.
Rechsteiner, Delia; Issler, Lydia S; Koller, Samuel; Lang, Elena; Bahr, Luzy; Feil, Silke; Rüegger, Christoph; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology, 139(7):691.
Collier, Jack J; Guissart, Claire; Oláhová, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; et al; Bahr, Angela; Azzarello-Burri, Silvia; Rauch, Anita (2021). Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. New England Journal of Medicine, 384(25):2406-2417.
Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Ivanovski, Ivan; et al (2021). Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes, 12:962.
Bättig, Linda; Rosch, Richard; Steindl, Katharina; Bürki, Sarah E; Ramantani, Georgia (2021). Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epilectic Disorders, 23(3):506-510.
Bölsterli, Bigna K; Steindl, Katharina; Kottke, Raimund; Steinfeld, Robert; Boltshauser, Eugen (2021). Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. Neuropediatrics, 52(03):227.
Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Molecular Psychiatry, 26(6):2013-2024.
Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver Andreas; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):e594-e607.
Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Abou Jamra, Rami (2021). Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):808-815.
Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Jamra, Rami Abou (2021). Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):887.
Schmiady, Martin; Dave, Hitendu; Rüschoff, Jan Hendrick; Steindl, Katharina; Hübler, Michael; Schweiger, Martin (2021). Single coronary artery arising from an atretic pulmonary trunk. Asian Cardiovascular and Thoracic Annals, 29(4):327-329.
Corrêa, Thiago; Santos-Rebouças, Cíntia B; Mayndra, Maytza; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. Genes, 12:632.
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology, 89(4):828-833.
Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernandez-Garcia, Andres; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (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(3):502-516.
Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; et al; Asadollahi, Reza; Boonsawat, Paranchai; Rauch, Anita (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine:1-13.
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.
Mytils, Avishag; Kumar, Vineet; Tao, Qiu; Deis, Rachael; Levy, Karine; Masek, Markus; Eitan, Hagai; Nather, Farouq; Shawahny, Amal; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2021). Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, University of Zurich.
Johannsen, Emma B; Baughn, Linda B; Sharma, Neeraj; Zjacic, Nicolina; Pirooznia, Mehdi; Elhaik, Eran (2021). The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource. Genes, 12:216.
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.
Hysaj, Ola; Marqués-Gallego, Patricia; Richard, Aline; Elgizouli, Magdeldin; Nieters, Alexandra; Quack Lötscher, Katharina C; Rohrmann, Sabine (2021). Parathyroid Hormone in Pregnancy: Vitamin D and Other Determinants. Nutrients, 13:360.
Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas (2021). One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet Journal of Rare Diseases, 16:42.
Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.
