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Journal of Clinical Pathology|April 27, 2013
Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissuesKerstin Becker, Claudia Vollbrecht, Ulrike Koitzsch, et al.
The Journal of Pathology|February 6, 2019
Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapyTimon Heide, Angela Maurer, Monika Eipel, et al.
Clinical Nephrology|September 2, 2020
Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodiesAgnes Hackl, Florian Erger, Christine Skerka, et al.
Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, et al.
Kidney International Reports|May 20, 2021
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo SignalingFrancesca Fabretti, Nikolai Tschernoster, Florian Erger, et al.
Scientific Reports|March 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutationsAndrea Wenzel, Janine Altmueller, Arif B Ekici, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Genome Medicine|June 11, 2026
circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omicsIzabela Plumbom, Benedikt Obermayer, Raphael Raspe, et al.
The Lancet Regional Health. Europe|May 24, 2021
Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort studyMax Augustin, Philipp Schommers, Melanie Stecher, et al.
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