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Thomas von Känel

Observed names: T Von Kaenel, T Von Kanel, T. Von Kanel, T. Von Känel, T. Von Känell, T. von Kanel, T. von Känel, Thomas Von Kanel, Thomas Von Känel, Thomas von Kanel, Thomas von Känel, von Känel, Thomas
Institution: Hôpital du Valais
Observed institutions: University of Bern, University of Basel, University of Zurich, University Hospital of Bern, Medizinische Hochschule Hannover, University Hospital of Geneva, Instytut Matki i Dziecka, Kantonsspital Aarau, Hôpital du Valais
ORCID: 0000-0003-3099-2744
Observed ORCID: 0000-0003-3099-2744
OpenAlex ID: A5001123080
Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data
2010 · N. Derichs, J. Sanz, et al. · Thorax · 145
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Release of stem cells from quiescence reveals gliogenic domains in the adult mouse brain
2021 · Ana C. Delgado, Angel R. Maldonado-Soto, et al. · Science · 91
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Nuclear actin polymerization rapidly mediates replication fork remodeling upon stress by limiting PrimPol activity
2023 · Maria Dilia Palumbieri, Chiara Merigliano, et al. · Nature Communications · 36
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Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
2012 · Franziska M Gisler, Thomas von Kanel, et al. · European Journal of Human Genetics · 32
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DNA methylation analysis
2013 · Thomas Von Känel, Andreas R Huber · Swiss Medical Weekly · 26
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Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template
2010 · Thomas von Kanel, Dominik Gerber, et al. · Clinical Chemistry · 26
Detection of Exon Deletions within an Entire Gene (CFTR) by Relative Quantification on the LightCycler
2006 · Mircea Schneider, Franziska Joncourt, et al. · Clinical Chemistry · 24
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A
2013 · Thomas von Kanel, Frauke Stanke, et al. · European Journal of Human Genetics · 12
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The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
2009 · Javier Sanz, Thomas von Känel, et al. · European Journal of Human Genetics · 7
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A Swiss (εγδβ)0‐thalassemia patient with a novel 3‐Mb deletion associated with mild mental impairment
2012 · Thomas Von Kanel, Benno Röthlisberger, et al. · American Journal of Hematology · 6
Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity
2017 · Saskia Brunner-Agten, Thomas von Känel, et al. · Hemoglobin · 5
Detecting and resolving position-dependent temperature effects in real-time quantitative polymerase chain reaction
2011 · Thomas von Kanel, Dominik Gerber, et al. · Analytical Biochemistry · 5
Sample Number and Denaturation Time Are Crucial for the Accuracy of Capillary-Based LightCyclers
2007 · Thomas von Kanel, Florentin Adolf, et al. · Clinical Chemistry · 5
Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial
2026 · David Nanchen, Aziz Chaouch, et al. · JAMA Network Open · 3
Implementation of cascade genetic screening for familial hypercholesterolemia: Design of the Swiss catch randomized controlled trial
2021 · D. Nanchen, T. Von Känel, et al. · Atherosclerosis · 2
Genomic analyses of all known putative familial hypercholesterolemia mutations showcase the value and limitations of public familial hypercholesterolemia mutation databases
2020 · K Dobretz, A.S Karunajeewa, et al. · European Heart Journal · 1
Clinical and molecular characterization of the CF disease modifier syntaxin 1A (STX1A)
2010 · T. von Känel, F. Stanke, et al. · Journal of Cystic Fibrosis · 1
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Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler® using MLPA® hybridization probes
2008 · Mircea Schneider, Thomas von Känel, et al. · Clinica Chimica Acta · 1
Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry
2006 · André Schaller, Thomas von Känel, et al. · European Journal of Human Genetics · 1
Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial.
2026 · Nanchen, David, Chaouch, Aziz, et al. · Open Access CRIS of the University of Bern
Type and phenotype of pathogenic variants for familial hypercholesterolemia in Switzerland
2025 · Yann L'Huillier, Thomas Von Känel, et al. · Atherosclerosis
Participation rate and yield of indirect cascade genetic screening for familial hypercholesterolemia using a web-based communication platform (CATCH): a randomized multicenter implementation trial
2024 · D Nanchen, A Chaouch, et al. · European Heart Journal
Use of lipid-lowering drugs within a multicenter genetic cascade screening program for familial hypercholesterolemia
2023 · D. Nanchen, T. Von Känel, et al. · Atherosclerosis
Comparison of severe hypercholesterolemia patients with and without pathogenic variants
2022 · D Nanchen, T Von Kanel, et al. · European Heart Journal
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Entwicklung der genetischen und genomischen Medizin in der Schweiz
2018 · Isabel Filges, Deborah Bartholdi, et al. · Bulletin des Médecins Suisses
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Works count: 29
Citation count: 429
H-index: 8
I10-index: 8
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