Skip to main content

Publications

featured publications

  • A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel-Palade Bodies.

    International journal of molecular sciences

    Authors: Hamideh Yadegari, Muhammad Ahmer Jamil, Natascha Marquardt, Johannes Oldenburg

  • A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.

    Lancet (London, England)

    Authors: Jakob Lillemoen Drivenes, Regina C Betz, Anette Bygum

  • Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms.

    Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]

    Authors: Andreas W Schmidt, Andreas Kühnapfel, Holger Kirsten, Harald Grallert, Claus Hellerbrand, Falk Kiefer, Karl Mann, Sebastian Mueller, Markus M Nöthen, Annette Peters, Monika Ridinger, Josef Frank, Marcella Rietschel, Nicole Soranzo, Michael Soyka, Norbert Wodarz, Giovanni Malerba, Giovanni Gambaro, Christian Gieger, Markus Scholz, Sebastian Krug, Patrick Michl, Maren Ewers, Heiko Witt, Helmut Laumen, Jonas Rosendahl

  • Heart-Type Fatty Acid Binding Protein, Cardiovascular Outcomes, and Death: Findings From the German CKD Cohort Study.

    American journal of kidney diseases : the official journal of the National Kidney Foundation

    Authors: Markus P Schneider, Matthias Schmid, Jennifer Nadal, Christoph Wanner, Vera Krane, Jürgen Floege, Turgay Saritas, Martin Busch, Thomas Sitter, Nele Friedrich, Helena Stockmann, Heike Meiselbach, Matthias Nauck, Florian Kronenberg, Kai-Uwe Eckardt

  • The RNA helicase DDX3 promotes IFNB transcription via enhancing IRF-3/p300 holocomplex binding to the IFNB promoter.

    Scientific reports

    Authors: Wilaiporn Saikruang, Lena Ang Yan Ping, Hiroto Abe, Dacquin M Kasumba, Hiroki Kato, Takashi Fujita

  • Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.

    The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

    Authors: Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Ha-Yeun Chung, Andy Schumann, Susann S Schilling, Wibke Jantzen, Sabine Schröder, Thomas W Mühleisen, Markus M Nöthen, Christian A Hübner, Karl-Jürgen Bär

  • It's Not Always SIAD: Immunotherapy-Triggered Endocrinopathies Enter the Field of Cancer-Related Hyponatremia.

    Journal of the Endocrine Society

    Authors: Jenny Bischoff, Charlotte Fries, Alexander Heer, Friederike Hoffmann, Carsten Meyer, Jennifer Landsberg, Wiebke K Fenske

  • An imputation approach using subdistribution weights for deep survival analysis with competing events.

    Scientific reports

    Authors: Shekoufeh Gorgi Zadeh, Charlotte Behning, Matthias Schmid

  • Combining gene expression analysis of gastric cancer cell lines and tumor specimens to identify biomarkers for anti-HER therapies-the role of HAS2, SHB and HBEGF.

    BMC cancer

    Authors: Karolin Ebert, Ivonne Haffner, Gwen Zwingenberger, Simone Keller, Elba Raimúndez, Robert Geffers, Ralph Wirtz, Elena Barbaria, Vanessa Hollerieth, Rouven Arnold, Axel Walch, Jan Hasenauer, Dieter Maier, Florian Lordick, Birgit Luber

  • Quality of life in a large multinational haemophilia B cohort (The B-Natural study) - Unmet needs remain.

    Haemophilia : the official journal of the World Federation of Hemophilia

    Authors: Erik Berntorp, Petra LeBeau, Margaret V Ragni, Munira Borhany, Yasmina L Abajas, Michael D Tarantino, Katharina Holstein, Stacy E Croteau, Raina Liesner, Cristina Tarango, Manuela Carvalho, Catherine McGuinn, Eva Funding, Christine L Kempton, Christoph Bidlingmaier, Alice Cohen, Johannes Oldenburg, Susan Kearney, Christine Knoll, Philip Kuriakose, Suchitra Acharya, Ulrike M Reiss, Roshni Kulkarni, Michelle Witkop, Stefan Lethagen, Rebecca Krouse, Amy D Shapiro, Jan Astermark