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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
Sanz, Javier; von Känel, Thomas; Schneider, Mircea; Steiner, Bernhard; Schaller, André; Gallati, Sabina (2010). The CFTR frameshift mutation 3905insT and its effect at transcript and protein level. European journal of human genetics, 18(2), pp. 212-7. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2009.140
Derichs, Nico; Sanz, Javier; Von Kanel, Thomas; Stolpe, Cornelia; Zapf, Antonia; Tümmler, Burkhard; Gallati, Sabina; Ballmann, Manfred (2010). Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax, 65(7), pp. 594-9. London: BMJ Publishing Group 10.1136/thx.2009.125088
Schneider, Mircea; von Känel, Thomas; Sanz, Javier; Gallati, Sabina (2009). Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler using MLPA hybridization probes. Clinica chimica acta, 402(1-2), pp. 47-53. Amsterdam: Elsevier 10.1016/j.cca.2008.12.017
Schaller, André; von Känel, Thomas; Gehr, Benedikt; Sanz, Javier; Gallati, Sabina (2007). Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry. European journal of human genetics, 15(1), pp. 53-61. Houndmills, UK: Nature Publishing Group 10.1038/sj.ejhg.5201725
von Kanel, Thomas; Adolf, Florentin; Schneider, Mircea; Sanz, Javier; Gallati, Sabina (2007). Sample number and denaturation time are crucial for the accuracy of capillary-based LightCyclers. Clinical chemistry, 53(7), pp. 1392-4. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2007.086249
Pavlovic, Mladen; Schaller, André; Ammann, Roland A; Sanz, Javier; Pfammatter, Jean-Pierre; Carrel, Thierry; Berdat, Pascal; Gallati, Sabina (2006). Reduced atrial connexin43 expression after pediatric heart surgery. Biochemical and biophysical research communications, 342(1), pp. 310-5. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2006.01.146
Schneider, Mircea; Joncourt, Franziska; Sanz, Javier; von Känel, Thomas; Gallati, Sabina (2006). Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler. Clinical chemistry, 52(11), pp. 2005-12. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2005.065136
Pavlovic, Mladen; Schaller, André; Ammann, Roland A; Sanz, Javier; Pfammatter, Jean-Pierre; Carrel, Thierry; Berdat, Pascal; Gallati, Sabina (2005). Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children. Biochemical and biophysical research communications, 335(3), pp. 700-4. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2005.07.134
Steiner, Bernhard; Truninger, Kaspar; Sanz, Javier; Schaller, André; Gallati, Sabina (2004). The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. Human mutation, 24(2), pp. 120-9. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20064
