 | Up a level |
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
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
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
Bolognini, Ramona; Gerth-Kahlert, Christina; Abegg, Mathias; Bartholdi, Deborah; Mathis, Nicolas; Sturm, Veit; Gallati, Sabina; Schaller, André (2017). Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC medical genetics, 18(1), p. 22. BioMed Central 10.1186/s12881-017-0383-x
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
Schaller, André (2021). Mitochondriopathien - Erkrankungen zweier Genome. In: Müller, Hansjakob; Hadorn, Hans-Beat (eds.) Humangenetik und Anthropologie heute (pp. 23-34). Schwabe Verlag
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
