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Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y
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, 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
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
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
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
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: Steinkopff-Verlag; www.steinkopff.springer.de 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
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
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
