2022

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• For the complete listing of authors in order of publication, please use the authors list at the original publication. Or alternatively use the text file at the bottom of this page.

Vintschger, Ella; Kraemer, Dennis; Joset, Pascal; Horn, Anselm H C; Rauch, Anita; Sticht, Heinrich; Bachmann-Gagescu, Ruxandra (2022). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics:Epub ahead of print.

Filges, Isabel; Cichon, Sven; Nouspikel, Thierry; Porret, Naomi A; Rauch, Anita; Unger, Sheila (2022). Genetische Beratung: Konzepte, Missverständnisse, Perspektiven. Schweizerische Ärztezeitung (SÄZ), 103(4950):34-36.

Begemann, Anaïs; Oneda, Beatrice; Baumer Wolz, Alessandra; Guldimann, Marina; Tutschek, Boris; Rauch, Anita (2022). A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers. European Journal of Medical Genetics, 65(12):104628.

Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan C F; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2022). Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature Communications, 13:1282.

Trachsel, Tina Elvira; Prader, Seraina; Steindl, Katharina; Pachlopnik Schmid, Jana (2022). Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome. Frontiers in Immunology, 13:867206.

Hummel, Elisabeth; Elgizouli, Magdeldin; Sicorello, Maurizio; Leitão, Elsa; Beygo, Jasmin; Schröder, Christopher; Zeschnigk, Michael; Müller, Svenja; Herpertz, Stephan; Moser, Dirk; Kessler, Henrik; Horsthemke, Bernhard; Kumsta, Robert (2022). No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder. Scientific Reports, 12:17347.

Dingemans, Alexander J M; Hinne, Max; Truijen, Kim M G; Goltstein, Lia; et al; Rauch, Anita (2022). PhenoScore: AI-based phenomics to quantify rare disease and genetic variation. medRxiv 22281480, University of Zurich.

Borlin, Petra R; Brazzola, Pierluigi; Frontzek, Karl; Zanoni, Paolo; Morscher, Raphael J; Hench, Jürgen; Frank, Stephan; Kottke, Raimund; Rushing, Elisabeth J; Goeggel Simonetti, Barbara; Steindl, Katharina; Guerreiro Stucklin, Ana S (2022). Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child. Pediatric Blood & Cancer, 69(10):e29680.

van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella Avagliano; Baban, Anwar; Bassetti, Jennifer Alisha; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel Morales; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, K; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10):1377-1395.

Hiatt, Susan Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco,  Ashley Cannon, Giulia Caron, Yanmin Chen, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C. E. Hurst, Pascal Joset, Stanislav Kmoch, Benjamin R. Leadem, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J. L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine Nowak, Amanda G. Noyes, Matthew Osmond, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Richard M. Myers, Gregory M. Cooper (2022). Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype. medRxiv 22279724, University of Zurich.

Redaktion SÄZ; Rauch, Anita (2022). News der Woche : Gentests für Eltern. Schweizerische Ärztezeitung (SÄZ), 103(37):10.

Rauch, Anita (2022). Vaccin contre la variole du singe. Schweizerische Ärztezeitung (SÄZ), (103(37):10):8-11.

Bonnard, Elsa; Liu, Jun; Zjacic, Nicolina; Alvarez, Luis; Scholz, Monika (2022). Automatically tracking feeding behavior in populations of foraging C. elegans. eLife, 11:e77252.

Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics, 102(3):182-190.

Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; et al; Steinfeld, Robert; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2022). Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Journal of Medical Genetics, 59(9):878-887.

Ziegler, Alban; Steindl, Katharina; Hanner, Ashleigh S; Kumar Kar, Rajesh; Prouteau, Clément; Boland, Anne; Deleuze, Jean Francois; Coubes, Christine; Bézieau, Stéphane; Küry, Sébastien; Maystadt, Isabelle; Le Mao, Morgane; Lenaers, Guy; Navet, Benjamin; Faivre, Laurence; Tran Mau-Them, Frédéric; Zanoni, Paolo; Chung, Wendy K; Rauch, Anita; Bonneau, Dominique; Park, Myung Hee (2022). Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. American Journal of Human Genetics, 109(8):1549-1558.

Boonsawat, Paranchai; Horn, Anselm H C; Steindl, Katharina; Baumer Wolz, Alessandra; Joset, Pascal; Kraemer, Dennis; Bahr, Angela; Ivanovski, Ivan; Cabello Ferrete, Elena; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Sirleto, Pietro; Burkhardt, Tilo; Sticht, Heinrich; Rauch, Anita (2022). Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders. n p j Genomic Medicine, 7(1):45.

Rusterholz, Tamara D S; Hofmann, Claudia; Bachmann-Gagescu, Ruxandra (2022). Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome. Frontiers in Genetics, 13:939527.

Mytlis, Avishag; Kumar, Vineet; Qiu, Tao; Deis, Rachael; Hart, Neta; Levy, Karine; Masek, Markus; Shawahny, Amal; Ahmad, Adam; Eitan, Hagai; Nather, Farouq; Adar-Levor, Shai; Birnbaum, Ramon Y; Elia, Natalie; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2022). Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science, 376:6599.

Tan, Ge; Wolski, Witold Eryk; Kummer, Sandra; Hofstetter, Mara Carina; Theocharides, Alexandre P A; Manz, Markus G; Aebersold, Ruedi; Meier-Abt, Fabienne (2022). Proteomic identification of proliferation and progression markers in human polycythemia vera stem and progenitor cells. Blood advances, 6(11):3480-3493.

Mende, Nicole; Bastos, Hugo P; Santoro, Antonella; Mahbubani, Krishnaa T; Ciaurro, Valerio; Calderbank, Emily Francesca; Quiroga Londoño, Mariana; Sham, Kendig; Mantica, Giovanna; Morishima, Tatsuya; Mitchell, Emily; Lidonnici, Maria Rosa; Meier-Abt, Fabienne; Hayler, Daniel; Jardine, Laura; Curd, Abbie; Haniffa, Muzlifah; Ferrari, Giuliana; Takizawa, Hitoshi; Wilson, Nicola K; Gottgens, Bertie; Saeb-Parsy, Kourosh; Frontini, Mattia; Laurenti, Elisa (2022). Unique molecular and functional features of extramedullary hematopoietic stem and progenitor cell reservoirs in humans. Blood, 139(23):3387-3401.

Saebnia, Neda; Ebrahimzadeh-Vesal, Reza; Haddad-Mashhadrizeh, Aliakbar; Gholampour-Faroji, Nazanin; Schinzel, Albert; Neshati, Zeinab; Azimi-Nezhad, Mohsen (2022). Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Journal of assisted reproduction and genetics, 39(5):1195-1203.

Zanoni, Paolo; Steindl, Katharina; Rauch, Anita (2022). Response to Cueto-González et al. Genetics in Medicine, 24(3):757.

Lowther, Chelsea; Mehrjouy, Mana M; Collins, Ryan L; Bak, Mads C; Dudchenko, Olga; Brand, Harrison; Dong, Zirui; Rasmussen, Malene B; Gu, Huiya; Weisz, David; Nazaryan-Petersen, Lusine; Fjorder, Amanda S; Mang, Yuan; Lind-Thomsen, Allan; Mendez, Juan M M; Calle, Xabier; Chopra, Anuja; Hansen, Claus; Bugge, Merete; Broekema, Roeland V; Varilo, Teppo; Luukkonen, Tiia; Engelen, John; Vianna-Morgante, Angela M; Fonseca, Ana Carolina S; Mazzeu, Juliana F; Dornelles-Wawruk, Halinna; Abe, Kikue T; Vermeesch, Joris R; Van Den Bogaert, Kris; Schinzel, Albert; et al (2022). Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders. medRxiv 22270795, University of Zurich.

Rosato, Simonetta; Unger, Sheila; Campos-Xavier, Belinda; Caraffi, Stefano Giuseppe; Beltrami, Laura; Pollazzon, Marzia; Ivanovski, Ivan; Castori, Marco; Bonasoni, Maria Paola; Comitini, Giuseppina; Nikkels, Peter G J; Lindstrom, Kristin; Umandap, Christine; Superti-Furga, Andrea; Garavelli, Livia (2022). Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes, 13:261.

Aillaud, Isabelle; Kaniyappan, Senthilvelrajan; Chandupatla, Ram Reddy; Ramirez, Lisa Marie; Alkhashrom, Sewar; Eichler, Jutta; Horn, Anselm H C; Zweckstetter, Markus; Mandelkow, Eckhard; Sticht, Heinrich; Funke, Susanne Aileen (2022). A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitro. Alzheimer's Research & Therapy, 14:15.

Zanoni, Paolo; Panteloglou, Grigorios; Othman, Alaa; Haas, Joel T; Meier, Roger; Rimbert, Antoine; Futema, Marta; Abou-Khalil, Yara; Nørrelykke, Simon Flyvbjerg; Rzepiela, Andrzej J; Stoma, Szymon; Stebler, Michael; van Dijk, Freerk; Wijers, Melinde; Wolters, Justina C; Dalila, Nawar; Huijkman, Nicolette C A; Smit, Marieke; Gallo, Antonio; Carreau, Valerie; Philippi, Anne; Rabès, Jean-Pierre; Boileau, Catherine; Visentin, Michele; Vonghia, Luisa; Weyler, Jonas; Francque, Sven; Verrijken, An; Verhaegen, Ann; Van Gaal, Luc; et al; von Eckardstein, Arnold (2022). Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome. Circulation Research, 130(1):80-95.

Cichon, Sven; Rauch, Anita (2022). Medizinische Genetik – Vom Orchideenfach zur Schlüsseldisziplin : Mit dem Abschluss des Humangenomprojektes im Jahr 2003 wurden grosse Erwartungen an die Rolle der Genetik im medizinischen Alltag geweckt. Haben sich diese heute bereits erfüllt? Swiss Medical Forum, 2022(01-02):11-13.

Omlin, Aurelius; Pratsinis, Manolis; Stoll, Susanna; Riniker, Salome; Hess Soom, Julie; Förbs, Diana; Padberg Sgier, Barbara; Azzarello-Burri, Silvia; Rothermundt, Christian (2022). Molekulargenetik und Molekularpathologie beim Prostatakarzinom. Swiss Medical Forum, 22(1-2):28-34.