04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik

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Number of items at this level: 44.

2019

Rüegg, Corina S; Kuehni, Claudia E; Gallati, Sabina; Jurca, Maja; Jung, Andreas; Casaulta, Carmen; Barben, Juerg (2019). Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns. Pediatric pulmonology, 54(3), pp. 264-272. Wiley-Blackwell 10.1002/ppul.24227

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

2018

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

Baruteau, Alban-Elouen; Kyndt, Florence; Behr, Elijah R; Vink, Arja S; Lachaud, Matthias; Joong, Anna; Schott, Jean-Jacques; Horie, Minoru; Denjoy, Isabelle; Crotti, Lia; Shimizu, Wataru; Bos, Johan M; Stephenson, Elizabeth A; Wong, Leonie; Abrams, Dominic J; Davis, Andrew M; Winbo, Annika; Dubin, Anne M; Sanatani, Shubhayan; Liberman, Leonardo; ... (2018). SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European Heart Journal, 39(31), pp. 2879-2887. Oxford University Press 10.1093/eurheartj/ehy412

Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer M; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück Pandey, Christa Emma; Feller, Katrin Madeleine; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J; Acierno, James; ... (2018). Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine, 20(8), pp. 872-881. Palgrave Macmillan 10.1038/gim.2017.197

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; Häberlin, 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; Häberlin, 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

Medeiros Domingo, Argelia; Bolliger, Stephan; Gräni, Christoph; Rieubland, Claudine; Hersch, Deborah; Asatryan, Babken; Schyma, Christian; Saguner, Ardan Muammer; Wyler, Daniel; Bhuiyan, Zahir; Fellman, Florence; Osculati, Antonio Marco; Ringger, Rebekka; Fokstuen, Siv; Sabatasso, Sara; Wilhelm, Matthias; Michaud, Katarzyna (2018). Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Swiss medical weekly, 148, w14638. EMH Schweizerischer Ärzteverlag 10.4414/smw.2018.14638

Frey, Stefan; Eichler, Anna; Stonawski, Valeska; Kriebel, Jennifer; Wahl, Simone; Gallati, Sabina; Goecke, Tamme W; Fasching, Peter A; Beckmann, Matthias W; Kratz, Oliver; Moll, Gunther H; Heinrich, Hartmut; Kornhuber, Johannes; Golub, Yulia (2018). Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children. Frontiers in behavioral neuroscience, 12, p. 125. Frontiers Research Foundation 10.3389/fnbeh.2018.00125

2017

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

2016

Braga, Sophie Marie-Pierre; Buchs, Natasha; Iacovache, Mircea Ioan; Zuber, Benoît; Jackson, Christopher; Heller, Manfred (2016). Robust Label-free, Quantitative Profiling of Circulating Plasma Microparticle (MP) Associated Proteins. Molecular & cellular proteomics, 15(12), pp. 3640-3652. American Society for Biochemistry and Molecular Biology 10.1074/mcp.M116.060491

Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010

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

Trachsel, T.; Ambuehl, J.; Rieubland, Claudine; Schibli, Susanne; Stranzinger, Enno; Wiest, Reiner; Fluri, S. (9 June 2016). Chronic pancreatitis in childhood – would you think about genetics? (Unpublished). In: SGP 2016. Bern. 09.-10.06.2016.

Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457

Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209

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

2015

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

Maas, Saskia M; Shaw, Adam C; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R; Cobben, JanMaarten; de Man, Stella A; Den Hollander, Nicolette S; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C; Hoogeboom, A Jeannette M; Jamsheer, Aleksander; Latos-Bielenska, Anna; ... (2015). Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European journal of medical genetics, 58(5), pp. 279-292. Elsevier 10.1016/j.ejmg.2015.03.002

Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758

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

Wilhelm, Matthias; Bolliger, Stephan A; Bartsch, Christine; Fokstuen, Siv; Gräni, Christoph; Martos, Viktor; Medeiros Domingo, Argelia; Osculati, Antonio; Rieubland, Claudine; Sabatasso, Sara; Saguner, Ardan Muammer; Schyma, Christian; Tschui, Joëlle; Wyler, Daniel; Bhuiyan, Zahurul A; Fellmann, Florence; Michaud, Katarzyna (2015). Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Swiss medical weekly, 145, w14129. EMH Schweizerischer Ärzteverlag 10.4414/smw.2015.14129

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

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

Müller, Cristina; Reber, Josefine; Haller, Stephanie; Dorrer, Holger; Bernhardt, Peter; Zhernosekov, Konstantin; Türler, Andreas; Schibli, Roger (2014). Direct in vitro and in vivo comparison of 161Tb and 177Lu using a tumour-targeting folate conjugate. European journal of nuclear medicine and molecular imaging, 41(3), pp. 476-485. Springer 10.1007/s00259-013-2563-z

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

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

Niemann, Moritz; Wiese, Sebastian; Mani, Jan; Chanfon, Astrid; Jackson, Christopher; Meisinger, Christof; Warscheid, Bettina; Schneider, André (2013). Mitochondrial Outer Membrane Proteome of Trypanosoma brucei Reveals Novel Factors Required to Maintain Mitochondrial Morphology. Molecular & cellular proteomics, 12(2), pp. 515-528. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/mcp.M112.023093

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

1997

Laporte, Jocelyn; Guiraud-Chaumeil, Christophe; Vincent, Marie-Claire; Mandel, Jean-Louis; Tanner, Stephan M.; Gallati, Sabina; Wallgren-Pettersson, Carina; Dahl, Niklas; Kress, Wolfram; Bolhuis, Pieter A.; Fardeau, Michel; Samson, Françoise; Bertini, Enrico (1997). Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy. Human molecular genetics, 6(9), pp. 1505-1511. Oxford University Press 10.1093/hmg/6.9.1505

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