Publications by authors named "Tim Jeske"

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Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Monika I Linder, Yoko Mizoguchi, Sebastian Hesse, Gergely Csaba, Megumi Tatematsu, Tim Jeske

Blood· February 2023

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TGF-β Induction of miR-143/145 Is Associated to Exercise Response by Influencing Differentiation and Insulin Signaling Molecules in Human Skeletal Muscle.
Simon I Dreher, Selina Höckele, Peter Huypens, Martin Irmler, Christoph Hoffmann, Tim Jeske

Cells· December 2021

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New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Demet Teker Duztas, Lina Al-Shadfan, Hakan Ozturk, Hakan Yazan, Erkan Cakir, Tim Jeske

Pediatr Dev Pathol· November 2021

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FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Luise A Schuch, Maria Forstner, Christina K Rapp, Yang Li, Desiree E C Smith, Tim Jeske

Clin Genet· June 2021

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Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, Sepideh Shahkarami, Samaneh Zoghi, Tim Jeske

Immunol Invest· May 2021

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The Human Phenotype Ontology in 2021.
Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Tim Jeske

Nucleic Acids Res· January 2021

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An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Alma Ziv, Lael Werner, Liza Konnikova, Aya Awad, Tim Jeske

J Clin Immunol· October 2020

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SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
Paul Hager, Hans-Werner Mewes, Meino Rohlfs, Christoph Klein, Tim Jeske

PLoS Comput Biol· February 2020

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DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences.
Tim Jeske, Peter Huypens, Laura Stirm, Selina Höckele, Christine M Wurmser

Bioinformatics· November 2019

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CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Thomas Magg, Anna Shcherbina, Duran Arslan, Mukesh M Desai, Sarah Wall, Tim Jeske

Inflamm Bowel Dis· October 2019

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KNIME4NGS: a comprehensive toolbox for next generation sequencing analysis.
Maximilian Hastreiter, Tim Jeske, Jonathan Hoser, Michael Kluge, Kaarin Ahomaa

Bioinformatics· May 2017

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