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Pedersen, ESL; de Jong, Carmen C M; Jurca, M; Berger, D O; Sanz, J; Sluka, Shm; Poms, M; Baumgartner, M R; Regamey, N; Kuehni, C E; Barben, J; Rueegg, C S (2024). Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up. Journal of cystic fibrosis, 23(4), pp. 796-803. Elsevier 10.1016/j.jcf.2024.04.008
Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine, 14(6) MDPI 10.3390/jpm14060648
Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Dix ans de dépistage néonatal de la mucoviscidose en Suisse. Swiss medical forum, 23(5), pp. 871-874. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2023.09321
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049
Agbariah, Nada; Sanz, Javier; Rovó, Alicia (2022). “A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature. Case reports in hematology, 2022, pp. 1-8. Hindawi 10.1155/2022/5867129
Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961
Kollbrunner, Lara; Hirt-Minkowski, Patricia; Sanz, Javier; Bresin, Elena; Neuhaus, Thomas J; Hopfer, Helmut; Jehle, Andreas W (2021). Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome. Frontiers in medicine, 8, p. 679048. Frontiers 10.3389/fmed.2021.679048
Bacher, Vera Ulrike; Porret, Naomi; Joncourt, Raphael; Sanz, Javier; Aliu, Nijas; Wiedemann, Gertrud; Jeker, Barbara; Banz Wälti, Yara; Pabst, Thomas (2018). Pitfalls in the molecular follow up of mutant acute myeloid leukemia. Haematologica - the hematology journal, 103(10), e486-e488. Ferrata-Storti Foundation 10.3324/haematol.2018.192104
