Tim Jeske

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

<scp>FARS1</scp> ‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐ <scp>tRNA</scp> synthetase genes: Look beyond the lungs!

Luise A. Schuch, Maria Forstner, Christina Rapp et al. · Clinical Genetics · 2021 · 33 citations · Full text

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

Thomas Magg, Anna Shcherbina, Duran Arslan et al. · Inflammatory Bowel Diseases · 2019 · 30 citations · Full text

SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases

Paul W. Hager, Hans‐Werner Mewes, Meino Rohlfs et al. · PLoS Computational Biology · 2020 · 29 citations · Full text

Genetic Testing, Engineering, Heterozygous Variant Pairs +19

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

Monika I. Linder, Yoko Mizoguchi, Sebastian Hesse et al. · Blood · 2022 · 26 citations · Full text

Genetics, Pathology, Molecular Genetics +16