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Benchmarking whole exome sequencing in the German network for personalized medicine2024 European Journal of Cancer article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, A. Ott, Eva Romanovsky, Janna Siemanowski, +91 more
12citations -
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing2022 Bioinformatics article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access cited by 1 patent
Hana Rozhoňová, Daniel Danciu, Stefan G. Stark, Gunnar Rätsch, André Kahles, Kjong-Van Lehmann
9citations -
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Hana Rozhoňová, Daniel Danciu, Stefan G. Stark, Gunnar Rätsch, André Kahles, Kjong-Van Lehmann
1citations -
Interlaboratory comparison using inactivated SARS-CoV-2 variants as a feasible tool for quality control in COVID-19 wastewater monitoring2023 The Science of The Total Environment article Medicine SARS-CoV-2 detection and testing Open access
Alexander Wilhelm, Jens Schoth, Christina Meinert‐Berning, Daniel Bastian, Helmut Blum, Goffe Elsinga, +17 more
11citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Defining Cases and Variants for Object-Centric Event Data2022 International Conference on Process Mining (ICPM) conference-paper Business, Management and Accounting Business Process Modeling and Analysis cited by 3 patents
Jan Niklas Adams, Daniel Schuster, Seth Schmitz, Günther Schuh, Wil M. P. van der Aalst
45citations -
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations -
New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency2020 American Journal of Respiratory Cell and Molecular Biology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
7citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, +13 more
61citations