Scientific Publications Search Search Author Impact Factor Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Adami, Eleonora Dr. (19) Akalin, Altuna Dr. (1) Altmueller, Janine Dr.med. (3) Arnau Soler, Aleix Dr. (2) Bader, Michael Prof. Dr. (7) Bähring, Sylvia Dr. (8) Bartels-Klein, Eireen (1) Bartolomaeus, Theda (2) Beule, Dieter Dr. (2) Birchmeier, Walter Prof. Dr. (1) Birchmeier-Kohler, Carmen Prof. Dr. (1) Blachut, Susanne (6) Blankenstein, Thomas Prof. Dr. (1) Born, Gabriele (1) Borodina, Tatiana Dr. (1) Chekulaeva, Marina Dr. (1) Chen, Wei Prof. Dr. (7) Dartsch, Josephine (1) Daumke, Oliver Prof. Dr. (1) Dechend, Ralf Priv. Doz. (7) Diecke, Sebastian Dr. (3) Fielitz, Jens Dr. (1) Forslund, Sofia Dr. (2) Franke, Vedran Dr. (1) Fritsche, Raphaela Dr. (1) Gerhardt, Holger Prof. Dr. (2) Ghauri, Ahla (2) Gorski, Stan Dr. (1) Gösele, Claudia Dr. (9) Gotthardt, Michael Prof. Dr. (6) Greiner, Johannes (2) Hammes-Lewin, Annette Dr. (4) Herse, Florian PD Dr. (5) Heuser, Arnd Dr. (6) Hodge, Russell (2) Hollfinger, Irene (1) Hübner, Norbert Prof. Dr. (265) Hummel, Oliver (35) Ivics, Zoltan Dr. (1) Izsvak, Zsuzsanna Dr. (4) Janke, Jürgen Dr. (2) Janz, Martin Dr. (1) Jeanrenaud, Alexander Carlin (1) Kamer, Ilona (1) Kammertöns, Thomas Dr. (1) Kirchner, Marieluise Dr. (5) Kirwan, Jennifer Dr. (1) Klaassen, Sabine Prof. Dr. med. (3) Klaus-Bergmann, Alexandra Dr. (1) Klußmann, Enno PD Dr. (3) Kolesnichenko, Marina Dr. (1) Krabbe, Grietje Dr. (1) Kunz, Severine Dr. (1) Landthaler, Markus Prof. Dr. (5) Langanki, Reika (3) Lee, Young-Ae Prof. Dr. (43) Leisegang, Matthias Prof. Dr. rer. nat. (1) Lewin, Gary Prof. Dr. (1) Liang, Ning Dr. (1) Lindberg, Eric Lars-Helge (10) Liu, Tiannan (1) Lohse, Martin Prof. Dr. (1) Ludwig, Leif S. Dr. med. Dr. rer. nat. (1) Luft, Friedrich Prof. Dr. (16) Lusatis, Simone (1) Maatz, Henrike Dr. (21) Mamo, Tamrat Meshka Dr. (1) Marenholz, Ingo Dr. (25) Marko, Lajos Dr. (2) Martin, Lisa Maria (1) Mathas, Stephan Dr. (3) Mertins, Philipp Dr. (6) Morano, Ingo Prof. Dr. (1) Müller, Dominik Prof. Dr. (8) Müller, Marion (1) Napieczynska, Hanna Dr. (2) Obermayer-Wasserscheid, Benedikt Dr. (2) Ohler, Uwe Prof. Dr. (2) Patone, Giannino Dr. (26) Perrot, Andreas (2) Pilz, Bernhard Dr. (1) Pischon, Tobias Prof. Dr. (2) Pombo, Ana Prof. Dr. (1) Popova, Elena Dr. (3) Popp, Oliver Dr. (4) Prigione, Alessandro Prof. Dr. (1) Qadri, Fatimunnisa Dr. (7) Radke, Michael Dr. (3) Rajewsky, Nikolaus Prof. Dr. (4) Richter, Matthias (1) Rrustemi, Trendelina (1) Ruiz Orera, Jorge Dr. (19) Saar, Kathrin Dr. (56) Sander, Maike Prof. Dr. (1) Scheidereit, Claus Prof. Dr. (2) Schlag, Peter M. Prof. Dr. (1) Schmidt, Sabine (3) Schmidt-Krüger, Vanessa Dr. (2) Schulz-Menger, Jeanette Prof. Dr. (2) Selbach, Matthias Prof. Dr. (4) Semtner, Marcus Dr. (1) Sholokh, Anastasiia (1) Shvetsov, Nikolay (1) Singh, Manvendra Dr. (1) Spagnoli, Francesca Dr. (2) Sporbert, Anje Dr. (1) Spuler, Simone Prof. (5) Sunaga-Franze, Daniele Yumi Dr. (1) Taube, Martin (2) Telugu, Narasimha Swamy Dr. (1) Todiras, Mihail (1) Uckert, Wolfgang Prof. Dr. (1) Vidal, Marie Dr. (1) Wallukat, Gerd Dr. (4) Wanker, Erich Prof. Dr. (3) Wenzel, Katrin Dr. (6) Willnow, Thomas Prof. Dr. (4) Woehler, Andrew Dr. (1) Wollert-Wulf, Brigitte (1) Wyler, Emanuel Dr. (3) Zauber, Henrik Dr. (1) Zenkner, Martina (1) Ziehm, Matthias Dr. (1) Zühlke, Kerstin Dr. (2) Zywitza, Vera Dr. (1) 2004 (7) 2005 (7) 2006 (5) 2007 (6) 2008 (3) 2009 (11) 2010 (5) 2011 (1) 2012 (5) 2013 (2) 2014 (4) 2015 (5) 2016 (1) 2017 (4) 2018 (3) 2019 (4) 2020 (6) 2021 (4) 2022 (1) 2024 (1) Anchored Signalling (1) Computational Regulatory Genomics (2) Developmental Biology / Signal Transduction (1) Epigenetic Modifications in Neuroblastoma (1) (-) Genetics and Genomics of Cardiovascular Diseases (85) Genomics (3) Integrative Vascular Biology (3) Intracellular Proteolysis (4) Microenvironmental Regulation in Autoimmunity and Cancer (1) Molecular Biology of Peptide Hormones (1) Molecular Genetics of Chronic Inflammation and Allergic Disease (23) Molecular Physiology of Somatic Sensation (1) Non-coding RNAs and Mechanisms of Cytoplasmic Gene Regulation (1) Out-patient Clinic for Pediatric Allergology and Atopic Dermatitis (23) Pancreatic Organoid Research and Disease Modeling (1) Pluripotent Stem Cells (1) Protein Production and Characterization (1) Proteomics (1) RNA Biology and Posttranscriptional Regulation (1) Systems Biology of Gene Regulatory Elements (1) Translational Bioinformatics (2) 85 Results: Active Filter: Genetics and Genomics of Cardiovascular Diseases Sort: Result score Newest to oldest Oldest to newest January 05, 2024 / Hum Mutat Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) S. Susgun A. Ben-Mahmoud F. Rüschendorf B. Ku S.I. Hussain S. Schulz O. Puk S. Biskup J.D.J. Labonne D.W. Don V. Gupta T.I. Choi S. Khan N. Wasif Y. Lacassie L.C. Layman S.A. Ugur Iseri C.H. Kim H.G. Kim October 01, 2022 / Hum Mutat Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function S.J. Lin B. Vona H.M. Porter M. Izadi K. Huang Y. Lacassie J.A. Rosenfeld S. Khan C. Petree T.A. Ali N. Muhammad S.A. Khan N. Muhammad P. Liu M.L. Haymon F. Rüschendorf I.K. Kong L. Schnapp N. Shur L. Chorich L. Layman T. Haaf E. Pourkarimi H.G. Kim G.K. Varshney December 08, 2021 / PLoS Comput Biol Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes V. Schneider-Lunitz J. Ruiz-Orera N. Hubner S. van Heesch November 16, 2021 / Nat Commun Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 S. Grosche I. Marenholz J. Esparza-Gordillo A. Arnau-Soler E. Pairo-Castineira F. Rüschendorf T.S. Ahluwalia C. Almqvist A. Arnold H. Baurecht H. Bisgaard K. Bønnelykke S.J. Brown M. Bustamante J.A. Curtin A. Custovic S.C. Dharmage A. Esplugues M. Falchi D. Fernandez-Orth M.A.R. Ferreira A. Franke S. Gerdes C. Gieger H. Hakonarson P.G. Holt G. Homuth N. Hubner P.G. Hysi M.R. Jarvelin R. Karlsson G.H. Koppelman S. Lau M. Lutz P.K.E. Magnusson G.B. Marks M. Müller-Nurasyid M.M. Nöthen L. Paternoster C.E. Pennell A. Peters K. Rawlik C.F. Robertson E. Rodriguez S. Sebert A. Simpson P.M.A. Sleiman M. Standl D. Stölzl K. Strauch A. Szwajda A. Tenesa P.J. Thompson V. Ullemar A. Visconti J.M. Vonk C.A. Wang S. Weidinger M. Wielscher C.L. Sargent C.J. Xu Y.A. Lee June 28, 2021 / Genome Biol A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion F. Witte J. Ruiz-Orera C. Ciolli Mattioli S. Blachut E. Adami J.F. Schulz V. Schneider-Lunitz O. Hummel G. Patone M.B. Mücke Jan Šilhavý M. Heinig L. Bottolo D. Sanchis M. Vingron M. Chekulaeva M. Pravenec N. Hubner S. van Heesch June 01, 2021 / Hum Genet A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans B. Vona N. Mazaheri S.J. Lin L.A. Dunbar R. Maroofian H. Azaiez K.T. Booth S. Vitry A. Rad F. Rüschendorf P. Varshney B. Fowler C. Beetz K.N. Alagramam D. Murphy G. Shariati A. Sedaghat H. Houlden C. Petree S. VijayKumar R.J.H. Smith T. Haaf A. El-Amraoui M.R. Bowl G.K. Varshney H. Galehdari November 11, 2020 / Genes Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families J. Doll B. Vona L. Schnapp F. Rüschendorf I. Khan S. Khan N. Muhammad S. Alam Khan H. Nawaz A. Khan N. Ahmad S.M. Kolb L. Kühlewein J.D.J. Labonne L.C. Layman M.A.H. Hofrichter T. Röder M. Dittrich T. Müller T.D. Graves I.K. Kong I. Nanda H.G. Kim T. Haaf October 28, 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong October 20, 2020 / J Genet Genomics Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong August 03, 2020 / eLife A human ESC-based screen identifies a role for the translated lncRNA LINC00261 in pancreatic endocrine differentiation B. Gaertner S. van Heesch V. Schneider-Lunitz J.F. Schulz F. Witte S. Blachut S. Nguyen R. Wong I. Matta N. Hübner M. Sander Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
January 05, 2024 / Hum Mutat Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) S. Susgun A. Ben-Mahmoud F. Rüschendorf B. Ku S.I. Hussain S. Schulz O. Puk S. Biskup J.D.J. Labonne D.W. Don V. Gupta T.I. Choi S. Khan N. Wasif Y. Lacassie L.C. Layman S.A. Ugur Iseri C.H. Kim H.G. Kim
October 01, 2022 / Hum Mutat Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function S.J. Lin B. Vona H.M. Porter M. Izadi K. Huang Y. Lacassie J.A. Rosenfeld S. Khan C. Petree T.A. Ali N. Muhammad S.A. Khan N. Muhammad P. Liu M.L. Haymon F. Rüschendorf I.K. Kong L. Schnapp N. Shur L. Chorich L. Layman T. Haaf E. Pourkarimi H.G. Kim G.K. Varshney
December 08, 2021 / PLoS Comput Biol Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes V. Schneider-Lunitz J. Ruiz-Orera N. Hubner S. van Heesch
November 16, 2021 / Nat Commun Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 S. Grosche I. Marenholz J. Esparza-Gordillo A. Arnau-Soler E. Pairo-Castineira F. Rüschendorf T.S. Ahluwalia C. Almqvist A. Arnold H. Baurecht H. Bisgaard K. Bønnelykke S.J. Brown M. Bustamante J.A. Curtin A. Custovic S.C. Dharmage A. Esplugues M. Falchi D. Fernandez-Orth M.A.R. Ferreira A. Franke S. Gerdes C. Gieger H. Hakonarson P.G. Holt G. Homuth N. Hubner P.G. Hysi M.R. Jarvelin R. Karlsson G.H. Koppelman S. Lau M. Lutz P.K.E. Magnusson G.B. Marks M. Müller-Nurasyid M.M. Nöthen L. Paternoster C.E. Pennell A. Peters K. Rawlik C.F. Robertson E. Rodriguez S. Sebert A. Simpson P.M.A. Sleiman M. Standl D. Stölzl K. Strauch A. Szwajda A. Tenesa P.J. Thompson V. Ullemar A. Visconti J.M. Vonk C.A. Wang S. Weidinger M. Wielscher C.L. Sargent C.J. Xu Y.A. Lee
June 28, 2021 / Genome Biol A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion F. Witte J. Ruiz-Orera C. Ciolli Mattioli S. Blachut E. Adami J.F. Schulz V. Schneider-Lunitz O. Hummel G. Patone M.B. Mücke Jan Šilhavý M. Heinig L. Bottolo D. Sanchis M. Vingron M. Chekulaeva M. Pravenec N. Hubner S. van Heesch
June 01, 2021 / Hum Genet A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans B. Vona N. Mazaheri S.J. Lin L.A. Dunbar R. Maroofian H. Azaiez K.T. Booth S. Vitry A. Rad F. Rüschendorf P. Varshney B. Fowler C. Beetz K.N. Alagramam D. Murphy G. Shariati A. Sedaghat H. Houlden C. Petree S. VijayKumar R.J.H. Smith T. Haaf A. El-Amraoui M.R. Bowl G.K. Varshney H. Galehdari
November 11, 2020 / Genes Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families J. Doll B. Vona L. Schnapp F. Rüschendorf I. Khan S. Khan N. Muhammad S. Alam Khan H. Nawaz A. Khan N. Ahmad S.M. Kolb L. Kühlewein J.D.J. Labonne L.C. Layman M.A.H. Hofrichter T. Röder M. Dittrich T. Müller T.D. Graves I.K. Kong I. Nanda H.G. Kim T. Haaf
October 28, 2020 / J Genet Genomics Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong
October 20, 2020 / J Genet Genomics Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation X. Su Y. Feng S.A. Rahman S. Wu G. Li F. Rüschendorf L. Zhao H. Cui J. Liang L. Fang H. Hu S. Froehler Y. Yu G. Patone O. Hummel Q. Chen K. Raile F.C. Luft S. Bähring K. Hussain W. Chen J. Zhang M. Gong
August 03, 2020 / eLife A human ESC-based screen identifies a role for the translated lncRNA LINC00261 in pancreatic endocrine differentiation B. Gaertner S. van Heesch V. Schneider-Lunitz J.F. Schulz F. Witte S. Blachut S. Nguyen R. Wong I. Matta N. Hübner M. Sander