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Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
Pignatti, Emanuele; Slone, Jesse; Gómez Cano, María Ángeles; Campbell, Teresa Margaret; Vu, Jimmy; Sauter, Kay-Sara; Pandey, Amit V; Martínez-Azorín, Francisco; Alonso-Riaño, Marina; Neilson, Derek E; Longo, Nicola; du Toit, Therina; Voegel, Clarissa D; Huang, Taosheng; Flück, Christa E (2024). FDXR variants cause adrenal insufficiency and atypical sexual development. JCI insight, 9(14) JCI Insight 10.1172/jci.insight.179071
Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251
Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
Praveen, Valiyaparambil Pavithran; Ladjouze, Asmahane; Sauter, Kay-Sara; Pulickal, Annie; Katharopoulos, Efstathios; Trippel, Mafalda; Perren, Aurel; Pandey, Amit V; Flück, Christa E (2020). Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. Journal of the Endocrine Society, 4(4), bvaa030. Oxford University Press 10.1210/jendso/bvaa030
Lussi, Carmela; Sauter, Kay Sara; Schweizer, Matthias (2018). Homodimerisation-independent cleavage of dsRNA by a pestiviral nicking endoribonuclease. Scientific Reports, 8(1), p. 8226. Nature Publishing Group 10.1038/s41598-018-26557-4
Zürcher, Christoph Martin; Sauter, Kay Sara; Schweizer, Matthias (2014). Pestiviral E(rns) blocks TLR-3-dependent IFN synthesis by LL37 complexed RNA. Veterinary microbiology, 174(3-4), pp. 399-408. Elsevier 10.1016/j.vetmic.2014.09.028
Zürcher, Christoph Martin; Sauter, Kay Sara; Mathys, Veronika; Wyss, Fabienne; Schweizer, Matthias (2014). Prolonged activity of the pestiviral RNase Erns as an interferon antagonist after uptake by clathrin-mediated endocytosis. Journal of virology, 88(13), pp. 7235-7243. American Society for Microbiology 10.1128/JVI.00672-14
Marques Antunes de Oliveira, Adriano; Stalder, Hanspeter; Peterhans, Ernst; Sauter, Kay Sara; Schweizer, Matthias (2013). Complete genome sequences of both biotypes of a virus pair of bovine viral diarrhea virus subgenotype 1k. Genome Announcements, 1(4), e00287-13. American Society for Microbiology 10.1128/genomeA.00287-13
