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Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924
Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. Nephrology, dialysis, transplantation, 39(9), pp. 1426-1441. Oxford University Press 10.1093/ndt/gfae074
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
Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696
Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076
Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007
Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Hundsberger, Felix; Escher, Pascal; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2023). The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 549-552. Thieme 10.1055/a-2055-1051
Sanlialp, Ayse; Escher, Pascal; Schaller, André; Todorova, Margarita (2023). Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 536-543. Thieme 10.1055/a-2034-6250
Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556
Schaller, André (2021). Mitochondriopathien - Erkrankungen zweier Genome. In: Müller, Hansjakob; Hadorn, Hans-Beat (eds.) Humangenetik und Anthropologie heute (pp. 23-34). Schwabe Verlag
Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814
Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25
Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI 10.3390/genes12060812
Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2
Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115
Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal (2020). Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic genetics, 41(1), pp. 73-78. Taylor & Francis 10.1080/13816810.2020.1727536
Sinnecker, Tim; Andelova, Michaela; Mayr, Michael; Rüegg, Stephan; Sinnreich, Michael; Hench, Juergen; Frank, Stephan; Schaller, André; Stippich, Christoph; Wuerfel, Jens; Bonati, Leo H (2019). Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. BMC neurology, 19(1), p. 91. BioMed Central 10.1186/s12883-019-1306-6
Lazdinyte, Simona; Schorderet, Daniel F; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2019). Analysis of Inherited Optic Neuropathies. Klinische Monatsblätter für Augenheilkunde, 236(4), pp. 451-461. Thieme 10.1055/a-0829-6828
Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374
Asatryan, Babken; Schaller, André; Seiler, Jens; Servatius, Helge Simon; Noti, Fabian; Baldinger, Samuel H.; Tanner, Hildegard; Roten, Laurent; Dillier, Roger; Lam, Anna; Haeberlin, Andreas; Conte, Giulio; Saguner, Ardan M.; Müller, Stephan Andreas; Duru, Firat; Auricchio, Angelo; Ammann, Peter; Sticherling, Christian; Burri, Haran; Reichlin, Tobias; ... (2019). Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease. The American journal of cardiology, 123(12), pp. 2031-2038. Elsevier 10.1016/j.amjcard.2019.02.061
Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7
Chua, Han Chow; Servatius, Helge Simon; Asatryan, Babken; Schaller, André; Rieubland, Claudine; Noti, Fabian; Seiler, Jens; Roten, Laurent; Baldinger, Samuel Hannes; Tanner, Hildegard; Fuhrer, Jürg; Haeberlin, Andreas; Lam, Anna; Pless, Stephan A; Medeiros Domingo, Argelia (2018). Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results. Clinical research in cardiology, 107(8), pp. 670-678. Springer-Verlag 10.1007/s00392-018-1233-3
Amini, Poorya; Stojkov, Darko; Felser, Andrea; Jackson, Christopher B; Courage, Carolina; Schaller, André; Gelman, Laurent; Soriano, Maria Eugenia; Nuoffer, Jean-Marc; Scorrano, Luca; Benarafa, Charaf; Yousefi, Shida; Simon, Hans-Uwe (2018). Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nature communications, 9(1), p. 2958. Nature Publishing Group 10.1038/s41467-018-05387-y
Asatryan, Babken; Schaller, André; Bartholdi, Deborah; Medeiros Domingo, Argelia (2018). Late-onset severe long QT syndrome. Annals of noninvasive electrocardiology, 23(4), e12517. Wiley 10.1111/anec.12517
Akdis, D; Saguner, A M; Medeiros Domingo, Argelia; Schaller, André; Balmer, C; Steffel, J; Brunckhorst, C; Duru, F (2018). Multiple clinical profiles of families with the short QT syndrome. Europace, 20(FI1), f113-f121. Oxford University Press 10.1093/europace/eux186
Servatius, Helge Simon; Porro, Alessandro; Pless, Stephan A; Schaller, André; Asatryan, Babken; Tanner, Hildegard; de Marchi, Stefano F; Roten, Laurent; Seiler, Jens; Haeberlin, Andreas; Baldinger, Samuel Hannes; Noti, Fabian; Lam, Anna; Fuhrer, Jürg; Moroni, Anna; Medeiros Domingo, Argelia (2018). Phenotypic Spectrum of Mutations: A Clinical Case. Circulation. Genomic and precision medicine, 11(2), e002033. American Heart Association 10.1161/CIRCGEN.117.002033
Schreglmann, Sebastian R; Riederer, Franz; Galovic, Marian; Ganos, Christos; Kägi, Georg; Waldvogel, Daniel; Jaunmuktane, Zane; Schaller, André; Hidding, Ute; Krasemann, Ernst; Michels, Lars; Baumann, Christian R; Bhatia, Kailash; Jung, Hans H (2018). Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. Movement disorders, 33(1), pp. 146-155. Wiley-Blackwell 10.1002/mds.27174
Mueller, Sandro Manuel; Gehrig, Saskia Maria; Petersen, Jens A; Frese, Sebastian; Mihaylova, Violeta; Ligon-Auer, Maria; Khmara, Natalia; Nuoffer, Jean-Marc; Schaller, André; Lundby, Carsten; Toigo, Marco; Jung, Hans H (2017). Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet journal of rare diseases, 12(1), p. 184. BioMed Central 10.1186/s13023-017-0740-z
Jackson, Christopher B; Hahn, Dagmar; Schröter, Barbara; Richter, Uwe; Battersby, Brendan J; Schmitt-Mechelke, Thomas; Marttinen, Paula; Nuoffer, Jean-Marc; Schaller, André (2017). A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. European journal of medical genetics, 60(6), pp. 345-351. Elsevier 10.1016/j.ejmg.2017.04.006
Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, André; Favrat, Bernard; Barbey, Frederic; Lobrinus, J Alexander; Kern, Ilse; Kuntzer, Thierry; Ballhausen, Diana (2017). [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. Revue médicale suisse, 13(546), pp. 159-163. Médecine & Hygiène
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
Pröbstel, Anne-Katrin; Schaller, André; Lieb, Johanna; Hench, Juergen; Frank, Stephan; Fuhr, Peter; Kappos, Ludwig; Sinnreich, Michael (2016). Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. Neurology Genetics, 2(6), e121. Wolters Kluwer 10.1212/NXG.0000000000000121
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
Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189
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
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
Schild, Christof; Hahn, Dagmar Karen; Schaller, André; Jackson, Christopher; Rothen-Rutishauser, Barbara; Mirkovitch, Jelena; Nuoffer, Jean-Marc (2014). Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. Amino acids, 46(7), pp. 1775-1783. Springer 10.1007/s00726-014-1730-2
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; 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
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
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
Spaniol, Violeta; Troller, Rolf; Schaller, André; Aebi, Christoph (2011). Physiologic cold shock of Moraxella catarrhalis affects the expression of genes involved in the iron acquisition, serum resistance and immune evasion. BMC microbiology, 11, p. 182. London: BioMed Central 10.1186/1471-2180-11-182
Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer
Jetter, Marion; Heiniger, Nadja; Spaniol, Violeta; Troller, Rolf; Schaller, André; Aebi, Christoph (2009). Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins. BMC microbiology, 9, p. 188. London: BioMed Central 10.1186/1471-2180-9-188
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
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
Gorgoni, Barbara; Andrews, Stuart; Schaller, André; Schümperli, Daniel; Gray, Nicola K; Müller, Berndt (2005). The stem-loop binding protein stimulates histone translation at an early step in the initiation pathway. RNA - a publication of the RNA Society, 11(7), pp. 1030-1042. Woodbury, N.Y.: Cold Spring Harbor Laboratory Press 10.1261/rna.7281305
