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Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Jürg (2013). Dépistage néonatal de la mucoviscidose - évaluation après une année. Paediatrica, 24(2), pp. 8-12. Swiss Society of Paedriatics
Ruegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Jürg (2013). Neugeborenen-Screening auf Cystische Fibrose – Evaluation nach einem Jahr. Paediatrica, 24(3), pp. 24-28. Swiss Society of Paedriatics
Kraemer, Richard; Baty, Florent; Smith, Hans-Jürgen; Minder, Stefan; Gallati, Sabina; Brutsche, Martin H; Matthys, Heinrich (2024). Assessment of functional diversities in patients with Asthma, COPD, Asthma-COPD overlap, and Cystic Fibrosis (CF). PLoS ONE, 19(2) Public Library of Science 10.1371/journal.pone.0292270
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Fingerhut, Ralph; Rueegg, Corina Silvia; Imahorn, Orell; Pedersen, Eva Sophie Lunde; Kuehni, Claudia Elisabeth; Gallati, Sabina; Regamey, Nicolas; Barben, Jürg (2023). Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis. Archives of disease in childhood. Fetal and neonatal edition, 108(2), pp. 176-181. BMJ Publishing Group 10.1136/archdischild-2021-323549
Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394
Rüegg, Corina S; Kuehni, Claudia E; Gallati, Sabina; Jurca, Maja; Jung, Andreas; Casaulta, Carmen; Barben, Juerg (2019). Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns. Pediatric pulmonology, 54(3), pp. 264-272. Wiley-Blackwell 10.1002/ppul.24227
Radtke, Thomas; Hebestreit, Helge; Gallati, Sabina; Schneiderman, Jane E; Braun, Julia; Stevens, Daniel; Hulzebos, Erik Hj; Takken, Tim; Boas, Steven R; Urquhart, Don S; Lands, Larry C; Tejero, Sergio; Sovtic, Aleksandar; Dwyer, Tiffany; Petrovic, Milos; Harris, Ryan A; Karila, Chantal; Savi, Daniela; Usemann, Jakob; Mei-Zahav, Meir; ... (2018). CFTR Genotype and Maximal Exercise Capacity in Cystic Fibrosis: A Cross-sectional Study. Annals of the American Thoracic Society, 15(2), pp. 209-216. American Thoracic Society 10.1513/AnnalsATS.201707-570OC
Frey, Stefan; Eichler, Anna; Stonawski, Valeska; Kriebel, Jennifer; Wahl, Simone; Gallati, Sabina; Goecke, Tamme W; Fasching, Peter A; Beckmann, Matthias W; Kratz, Oliver; Moll, Gunther H; Heinrich, Hartmut; Kornhuber, Johannes; Golub, Yulia (2018). Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children. Frontiers in behavioral neuroscience, 12, p. 125. Frontiers Research Foundation 10.3389/fnbeh.2018.00125
Courage, Carolina; Jackson, Christopher; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean-Marc; Gallati, Sabina; Schaller, André (2017). SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. American journal of medical genetics. Part A, 173(1), pp. 225-230. Wiley-Liss 10.1002/ajmg.a.37986
Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209
Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller, Rikke S; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S; Arslan, Mutluay; Serratosa, José M; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239
Dhayat, Nasser; Schaller, André; Albano, Giuseppe; Poindexter, John; Griffith, Carolyn; Pasch, Andreas; Gallati, Sabina; Vogt, Bruno; Moe, Orson; Fuster, Daniel Guido (2015). The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers. Journal of the American Society of Nephrology, 27(5), pp. 1544-1554. Lippincott Williams & Wilkins 10.1681/ASN.2015040367
Jackson, Christopher; Neuwirth, Christoph; Hahn, Dagmar Karen; Nuoffer, Jean-Marc; Frank, Stephan; Gallati, Sabina; Schaller, André (2014). Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. British journal of ophthalmology, 98(10), pp. 1453-1459. BMJ Publishing Group 10.1136/bjophthalmol-2014-305300
Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003
Jackson, Christopher; Zbinden, C; Gallati, Sabina; Schaller, André (2014). Heterologous expression from the human D-Loop in organello. Mitochondrion, 17, pp. 67-75. Elsevier 10.1016/j.mito.2014.05.011
Stickel, Felix; Buch, Stephan; Zoller, Heinz; Hultcrantz, Rolf; Gallati, Sabina; Österreicher, Christoph; Finkenstedt, Armin; Stadlmayr, Andreas; Aigner, Elmar; Sahinbegovic, Enijad; Sarrazin, Christoph; Schafmayer, Clemens; Braun, Felix; Erhart, Wiebke; Nothnagel, Michael; Lerch, Markus M; Mayerle, Julia; Völzke, Henry; Schaller, André; Kratzer, Wolfgang; ... (2014). Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Human molecular genetics, 23(14), pp. 3883-3890. Oxford University Press 10.1093/hmg/ddu076
Gallati, Sabina (2014). Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. The application of clinical genetics, 7, pp. 133-146. Dove Press 10.2147/TACG.S18675
Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932
Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Juerg (2013). One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Deutsches Ärzteblatt international, 110(20), pp. 356-363. Deutscher Ärzte-Verlag 10.3238/arztebl.2013.0356
Torresani, Toni; Fingerhut, Ralph; Rueegg, Corina S; Gallati, Sabina; Kuehni, Claudia E; Baumgartner, Matthias R; Barben, Juerg (2013). Newborn screening for cystic fibrosis in Switzerland - Consequences after analysis of a 4 months pilot study. Journal of cystic fibrosis, 12(6), pp. 667-674. Amsterdam: Elsevier 10.1016/j.jcf.2013.04.008
von Kanel, Thomas; Stanke, Frauke; Weber, Melanie; Schaller, Andre; Racine, Julien; Kraemer, Richard; Chanson, Marc; Tümmler, Burkhard; Gallati, Sabina (2013). Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A. European journal of human genetics, 21(12), pp. 1462-1466. Houndmills, UK: Nature Publishing Group
Gisler, Franziska M; von Kanel, Thomas; Kraemer, Richard; Schaller, André; Gallati, Sabina (2013). Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis. European journal of human genetics, 21(4), pp. 397-403. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2012.181
Gallati, Sabina (2013). Cystic Fibrosis: Genetics, pathophysiology and epidemiology of CF. In: Eber, Ernst; Midulla, Fabio (eds.) ERS Handbook of Paediatric Respiratory Medicine (pp. 390-396). European Respiratory Society
Gallati, Sabina (2013). Genetische Diagnostik. In: von Mutius, Erika; Gappa, Monika; Eber, Ernst; Frey, Urs (eds.) Paediatrische Pneumologie (pp. 390-396). Springer Verlag
Gallati, Sabina (2013). Zystische Fibrose - Genetik. In: von Mutius, Erika; Gappa, Monika; Eber, Ernst; Frey, Urs (eds.) Paediatrische Pneumologie (pp. 589-596). Springer Verlag
Nicoulaz, A; Rubi, F; Lieder, L; Wolf, R; Goeggel-Simonetti, B; Steinlin, M; Wiest, R; Bonel, H M; Schaller, A; Gallati, S; Conrad, B (2011). Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. American journal of medical genetics. Part A, 155(8), pp. 1964-1968. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.33210
Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; Chardot, Christophe; Belli, Dominique C; Gallati, Sabina; Nuoffer, Jean-Marc (2011). Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC neurology, 11, p. 4. London: BioMed Central 10.1186/1471-2377-11-4
Kraemer, R; Latzin, P; Pramana, I; Ballinari, P; Gallati, S; Frey, U (2009). Long-term gas exchange characteristics as marker of deterioration in patients with cystic fibrosis. Respiratory research, 10(106), [1-12]. London: BioMed Central 10.1186/1465-9921-10-106
Mefford, Heather C; Sharp, Andrew J; Baker, Carl; Itsara, Andy; Jiang, Zhaoshi; Buysse, Karen; Huang, Shuwen; Maloney, Viv K; Crolla, John A; Baralle, Diana; Collins, Amanda; Mercer, Catherine; Norga, Koen; de Ravel, Thomy; Devriendt, Koen; Bongers, Ernie M H F; de Leeuw, Nicole; Reardon, William; Gimelli, Stefania; Bena, Frederique; ... (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England journal of medicine NEJM, 359(16), pp. 1685-99. Waltham, Mass.: Massachusetts Medical Society MMS 10.1056/NEJMoa0805384
Schüpbach, W; Vadday, K; Schaller, A; Brekenfeld, C; Kappeler, L; Benoist, JF; Xuan-Huong, C; Burgunder, J; Seibold, F; Gallati, S; Mattle, H (2007). Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. Journal of neurology, 254(2), pp. 146-53. Heidelberg: Steinkopff-Verlag; www.steinkopff.springer.de 10.1007/s00415-006-0255-3
Iliev, ME; Bodmer, S; Gallati, S; Lanz, R; Sturmer, J; Katsoulis, K; Wolf, S; Trittibach, P; Sarra, GM (2007). Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation. Eye, 22(7), pp. 880-888. London: Nature Publishing Group 10.1038/sj.eye.6702745
Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617
Kraemer, Richard; Baldwin, David N; Ammann, Roland A; Frey, Urs; Gallati, Sabina (2006). Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis. Respiratory research, 7(1), p. 138. London: BioMed Central 10.1186/1465-9921-7-138
Kraemer, Richard; Deloséa, Natascha; Ballinari, Pietro; Gallati, Sabina; Crameri, Reto (2006). Effect of allergic bronchopulmonary aspergillosis on lung function in children with cystic fibrosis. American journal of respiratory and critical care medicine, 174(11), pp. 1211-1220. New York, N.Y.: American Lung Association 10.1164/rccm.200603-423OC
Laporte, Jocelyn; Guiraud-Chaumeil, Christophe; Vincent, Marie-Claire; Mandel, Jean-Louis; Tanner, Stephan M.; Gallati, Sabina; Wallgren-Pettersson, Carina; Dahl, Niklas; Kress, Wolfram; Bolhuis, Pieter A.; Fardeau, Michel; Samson, Françoise; Bertini, Enrico (1997). Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy. Human molecular genetics, 6(9), pp. 1505-1511. Oxford University Press 10.1093/hmg/6.9.1505
Sander, A.K.; Gallati, Sabina; Kunze, N.; Moser, H.; Zingg, M.; Raveh, J. (1992). An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q. Human molecular genetics, 1(4), p. 288. Oxford University Press 10.1093/hmg/1.4.288
