Gallati, Sabina

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2015

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

2014

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

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

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

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

2013

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

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

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

2012

Nair, Anil V; Hocher, Berthold; Verkaart, Sjoerd; van Zeeland, Femke; Pfab, Thiemo; Slowinski, Torsten; Chen, You-Peng; Schlingmann, Karl Peter; Schaller, André; Gallati, Sabina; Bindels, René J; Konrad, Martin; Hoenderop, Joost G (2012). Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 109(28), pp. 11324-9. Washington, D.C.: National Academy of Sciences NAS 10.1073/pnas.1113811109

Jackson, Christopher B; Gallati, Sabina; Schaller, André (2012). qPCR-based mitochondrial DNA quantification: Influence of template DNA fragmentation on accuracy. Biochemical and biophysical research communications, 423(3), pp. 441-7. Orlando, Fla.: Academic Press 10.1016/j.bbrc.2012.05.121

Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x

Barben, Juerg; Gallati, Sabina; Fingerhut, Ralph; Schoeni, Martin H; Baumgartner, Matthias R; Torresani, Toni; SWISS CF SCREENING GROUP, (2012). Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. Journal of cystic fibrosis, 11(4), pp. 332-6. Amsterdam: Elsevier 10.1016/j.jcf.2012.01.001

Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x

2011

Wingeier, Kevin; Giger, Elisabeth; Strozzi, Susi; Kreis, Roland; Joncourt, Franziska; Conrad, Bernard; Gallati, Sabina; Steinlin, Maja (2011). Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. Journal of clinical neuroscience, 18(1), pp. 90-5. Amsterdam: Elsevier 10.1016/j.jocn.2010.07.118

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, 155A(8), pp. 1964-8. 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

Schaller, A; Desetty, R; Hahn, D; Jackson, C B; Nuoffer, J-M; Gallati, S; Levinger, L (2011). Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion, 11(3), pp. 488-96. Amsterdam: Elsevier 10.1016/j.mito.2011.01.005

von Kanel, Thomas; Gerber, Dominik; Wittwer, Carl T; Hermann, Mark; Gallati, Sabina (2011). Detecting and resolving position-dependent temperature effects in real-time quantitative polymerase chain reaction. Analytical biochemistry, 419(2), pp. 161-7. San Diego, Calif.: Elsevier 10.1016/j.ab.2011.08.041

Steiner, Bernhard; Rosendahl, Jonas; Witt, Heiko; Teich, Niels; Keim, Volker; Schulz, Hans-Ulrich; Pfützer, Roland; Löhr, Matthias; Lühr, Matthias; Gress, Thomas M; Nickel, Renate; Landt, Olfert; Koudova, Monika; Macek, Milan; Farre, Antoni; Casals, Teresa; Desax, Marie-Claire; Gallati, Sabina; Gomez-Lira, Macarena; Audrezet, Marie Pierre; ... (2011). Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Human mutation, 32(8), pp. 912-20. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21511

Hurst, Jane A; Jenkins, Dagan; Vasudevan, Pradeep C; Kirchhoff, Maria; Skovby, Flemming; Rieubland, Claudine; Gallati, Sabina; Rittinger, Olaf; Kroisel, Peter M; Johnson, David; Biesecker, Leslie G; Wilkie, Andrew O M (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. European journal of human genetics, 19(7), pp. 757-62. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2011.13

2010

von Kanel, Thomas; Gerber, Dominik; Schaller, André; Baumer, Alessandra; Wey, Eva; Jackson, Christopher B; Gisler, Franziska M; Heinimann, Karl; Gallati, Sabina (2010). Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template. Clinical chemistry, 56(7), pp. 1098-106. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2009.142828

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

Barben, J; Torresani, T; Schöni, M; Gallati, S; Baumgartner, M (2010). Neugeborenen-Screening auf Cystische Fibrose - ab 1. Januar auch in der Schweiz. Paediatrica, 21, pp. 38-41. Zürich: Schweizerische Gesellschaft für Pädiatrie SGP

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

2009

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

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

Gallati, Sabina; Hess, Simone; Galié-Wunder, Dorothea; Berger-Menz, Elisabeth; Böhlen, Dominik (2009). Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. Reproductive biomedicine online, 19(5), pp. 685-94. Oxford: Elsevier 10.1016/j.rbmo.2009.09.002

2008

Konrad, Martin; Hou, Jianghui; Weber, Stefanie; Dötsch, Jörg; Kari, Jameela A; Seeman, Tomas; Kuwertz-Bröking, Eberhard; Peco-Antic, Amira; Tasic, Velibor; Dittrich, Katalin; Alshaya, Hammad O; von Vigier, Rodo O; Gallati, Sabina; Goodenough, Daniel A; Schaller, André (2008). CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Journal of the American Society of Nephrology, 19(1), pp. 171-81. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1681/ASN.2007060709

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

Stanke, F; Ballmann, M; Bronsveld, I; Dörk, T; Gallati, S; Laabs, U; Derichs, N; Ritzka, M; Posselt, H-G; Harms, H K; Griese, M; Blau, H; Mastella, G; Bijman, J; Veeze, H; Tümmler, B (2008). Diversity of the basic defect of homozygous CFTR mutation genotypes in humans. Journal of medical genetics, 45(1), pp. 47-54. London: BMJ Publishing Group 10.1136/jmg.2007.053561

2007

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

Pachlopnik Schmid, JM; Kuehni, CE; Strippoli, MP; Roiha, HL; Pavlovic, R; Latzin, P; Gallati, S; Kraemer, R; Dahinden, C; Frey, U; Swiss, Pediatric Respiratory Research Group (2007). Maternal tobacco smoking and decreased leukocytes, including dendritic cells, in neonates. Pediatric research, 61(4), pp. 462-6. New York, N.Y.: Nature Publishing Group 10.1203/pdr.0b013e3180332d02

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: Springer-Medizin-Verlag 10.1007/s00415-006-0255-3

Schneider, M; Hirt, C; Casaulta, C; Barben, J; Spinas, R; Bühlmann, U; Spalinger, J; Schwizer, B; Chevalier-Porst, F; Gallati, S (2007). Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clinical genetics, 72(1), pp. 30-8. Oxford: Wiley-Blackwell 10.1111/j.1399-0004.2007.00820.x

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

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

Akhvlediani, Tamar; Sandor, Peter S; Henning, Anke; Schaller, André; Jauslin, Marco; Gallati, Sabina; Boesiger, Peter; Jung, Hans H (2007). Mitochondrial encephalopathy with CADASIL-like MRI. European neurology, 58(3), pp. 185-8. Basel: Karger 10.1159/000104723

2006

Konrad, Martin; Schaller, Andre; Seelow, Dominik; Pandey, Amit V; 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

Pavlovic, Mladen; Schaller, André; Ammann, Roland A; Pfammatter, Jean-Pierre; Berdat, Pascal; Carrel, Thierry; Gallati, Sabina (2006). Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery. Experimental biology and medicine, 231(8), pp. 1300-5. Maywood, N.J.: Society for Experimental Biology & Medicine

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

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, 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

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

Schaller, André; Troller, Rolf; Molina, Daniel; Gallati, Sabina; Aebi, Christoph; Stutzmann Meier, Patricia (2006). Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry. Proteomics, 6(1), pp. 172-80. Weinheim: Wiley-VCH 10.1002/pmic.200500086

Ramelli, Gian Paolo; Gallati, Sabina; Weis, Joachim; Krähenbühl, Stephan; Burgunder, Jean-Marc (2006). Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. Journal of child neurology, 21(3), pp. 253-5. Hamilton, Ontario: Decker 10.2310/7010.2006.00047

Olivares, J L; Bueno, I; Gallati, S; Ramos, F J (2006). Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? Clinical genetics, 69(4), pp. 363-6. Oxford: Wiley-Blackwell 10.1111/j.1399-0004.2006.00596.x

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