| Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement M Konrad, A Schaller, D Seelow, AV Pandey, S Waldegger, A Lesslauer, ... The American Journal of Human Genetics 79 (5), 949-957, 2006 | 568 | 2006 |
| The gene for histone RNA hairpin binding protein is located on human chromosome 4 and encodes a novel type of RNA binding protein F Martin, A Schaller, S Eglite, D Schümperli, B Müller The EMBO journal, 1997 | 185 | 1997 |
| Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production P Amini, D Stojkov, A Felser, CB Jackson, C Courage, A Schaller, ... Nature communications 9 (1), 2958, 2018 | 149 | 2018 |
| Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy AV Nair, B Hocher, S Verkaart, F van Zeeland, T Pfab, T Slowinski, ... Proceedings of the National Academy of Sciences 109 (28), 11324-11329, 2012 | 145 | 2012 |
| CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis M Konrad, J Hou, S Weber, JA Kari, T Seeman, E Kuwertz-Bro, ... Journal of the American Society of Nephrology 19 (1), 171-181, 2008 | 127 | 2008 |
| Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ... Annals of clinical and translational neurology 2 (5), 492-509, 2015 | 111 | 2015 |
| Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency CB Jackson, JM Nuoffer, D Hahn, H Prokisch, B Haberberger, M Gautschi, ... Journal of medical genetics 51 (3), 170-175, 2014 | 99 | 2014 |
| The stem–loop binding protein stimulates histone translation at an early step in the initiation pathway B Gorgoni, S Andrews, A Schaller, D Schümperli, NK Gray, B Müller Rna 11 (7), 1030-1042, 2005 | 83 | 2005 |
| Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis F Stickel, S Buch, H Zoller, R Hultcrantz, S Gallati, C Österreicher, ... Human molecular genetics 23 (14), 3883-3890, 2014 | 70 | 2014 |
| Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? N Camats, M Fernández-Cancio, L Audí, A Schaller, CE Flück European Journal of Human Genetics 26 (9), 1329-1338, 2018 | 63 | 2018 |
| The vacuolar H+-ATPase B1 subunit polymorphism p. E161K associates with impaired urinary acidification in recurrent stone formers NA Dhayat, A Schaller, G Albano, J Poindexter, C Griffith, A Pasch, ... Journal of the American Society of Nephrology 27 (5), 1544-1554, 2016 | 58 | 2016 |
| The role of common single‐nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles B Steiner, K Truninger, J Sanz, A Schaller, S Gallati Human mutation 24 (2), 120-129, 2004 | 56 | 2004 |
| SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement C Courage, CB Jackson, D Hahn, L Euro, JM Nuoffer, S Gallati, A Schaller American Journal of Medical Genetics Part A 173 (1), 225-230, 2017 | 44 | 2017 |
| Molecular and biochemical characterisation of a novel mutation in POLGassociated with Alpers syndrome A Schaller, D Hahn, CB Jackson, I Kern, C Chardot, DC Belli, S Gallati, ... BMC neurology 11, 1-7, 2011 | 42 | 2011 |
| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 40 | 2021 |
| A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and … CB Jackson, M Huemer, R Bolognini, F Martin, G Szinnai, BC Donner, ... Human molecular genetics 28 (4), 639-649, 2019 | 40 | 2019 |
| Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features WMM Schüpbach, KM Vadday, A Schaller, C Brekenfeld, L Kappeler, ... Journal of neurology 254, 146-153, 2007 | 39 | 2007 |
| Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes–a case report T Sinnecker, M Andelova, M Mayr, S Rüegg, M Sinnreich, J Hench, ... BMC neurology 19, 1-8, 2019 | 38 | 2019 |
| Usefulness of genetic testing in sudden cardiac arrest survivors with or without previous clinical evidence of heart disease B Asatryan, A Schaller, J Seiler, H Servatius, F Noti, SH Baldinger, ... The American journal of cardiology 123 (12), 2031-2038, 2019 | 36 | 2019 |
| Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum SR Schreglmann, F Riederer, M Galovic, C Ganos, G Kägi, D Waldvogel, ... Movement disorders 33 (1), 146-155, 2018 | 35 | 2018 |
