Felix Boschann

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen et al. · Nucleic Acids Research · 2020 · 78 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Plasma Kynurenine Predicts Severity and Complications of Heart Failure and Associates with Established Biochemical and Clinical Markers of Disease

Thomas Dschietzig, Karl-Heinz Kellner, Katrin Sasse et al. · Kidney & Blood Pressure Research · 2019 · 39 citations · Full text

Medicine, Cardiology, Pharmacology +15

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo et al. · eLife · 2023 · 38 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +13