Scientific Publications Search Search Author Impact Factor Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Akalin, Altuna Dr. (1) Beule, Dieter Dr. (1) Birchmeier-Kohler, Carmen Prof. Dr. (1) Braeuning, Caroline (1) Burkert, Christian Martin (1) Conrad, Thomas Dr. (2) Diecke, Sebastian Dr. (1) Edes, Inan Dr. (1) Fischer, Cornelius Dr. (4) Ghanbari, Mahsa Dr. (1) Gouti, Mina Dr. (1) Harabula, Izabela-Cezara (1) Henssen, Anton Prof. Dr. med. (1) Kabuss, Loreen-Claudine (1) Kettenmann, Helmut Prof. Dr. (23) Ku, Min-Chi Dr. (2) Kunz, Severine Dr. (1) Lacadie, Scott Allen Dr. (1) Landthaler, Markus Prof. Dr. (2) Lupianez Garcia, Dario Jesus Dr. (1) Mertins, Philipp Dr. (1) Monti, Remo (1) Motta, Edyta (1) Niendorf, Thoralf Prof. Dr. (1) Nolte, Christiane Dr. (1) Obermayer-Wasserscheid, Benedikt Dr. (1) Ohler, Uwe Prof. Dr. (15) Plumbom, Izabela (1) Quedenau, Claudia (1) Röefzaad, Claudia (1) Schwarz, Roland Dr. (1) Semtner, Marcus Dr. (5) Spuler, Simone Prof. (1) Sunaga-Franze, Daniele Yumi Dr. (3) Uckert, Wolfgang Prof. Dr. (1) Vucicevic, Dubravka (1) Waiczies, Helmar Dr. (1) Waiczies, Sonia PD Dr. (2) Wolf, Susanne Dr. (8) Wyler, Emanuel Dr. (1) (-) Altmueller, Janine Dr.med. (53) (-) Hirsekorn, Antje (3) (-) Selbach, Matthias Prof. Dr. (2) (-) Zauber, Henrik Dr. (1) 2002 (1) 2005 (2) 2014 (7) 2015 (27) (-) 2016 (32) 2017 (35) 2018 (41) 2019 (33) (-) 2020 (25) 2021 (48) 2022 (38) 2023 (18) 2024 (2) Anchored Signalling (1) Bioinformatics and Omics Data Science (1) (-) Computational Regulatory Genomics (4) Experimental Ultrahigh-Field MR (6) Genetics of Metabolic and Reproductive Disorders (1) Genome Engineering & Disease Models (3) (-) Genomics (53) Immune Regulation and Cancer (6) Magnetic Resonance (6) Molecular Pathways in Cortical Development (1) Molecular Physiology of Somatic Sensation (1) Pluripotent Stem Cells (1) Proteome Dynamics (14) Proteomics and Molecular Mechanisms of Neurodegenerative Diseases (1) RNA Biology and Posttranscriptional Regulation (3) Structural Biology of Membrane-Associated Processes (2) Transgenics (3) 57 Results: Active Filter: Altmueller, Janine Dr.med.Hirsekorn, AntjeSelbach, Matthias Prof. Dr.Zauber, Henrik Dr.Computational Regulatory GenomicsGenomics20162020 Sort: Result score Newest to oldest Oldest to newest September 15, 2020 / Circulation Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy U. Hanses M. Kleinsorge L. Roos G. Yigit Y. Li B. Barbarics I. El-Battrawy H. Lan M. Tiburcy R. Hindmarsh C. Lenz G. Salinas S. Diecke C. Müller I. Adham J. Altmüller P. Nürnberg T. Paul W.H. Zimmermann G. Hasenfuss B. Wollnik L. Cyganek August 01, 2020 / Nat Struct Mol Biol Quantification of translation uncovers the functions of the alternative transcriptome L. Calviello A. Hirsekorn U. Ohler August 04, 2016 / Am J Hum Genet Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis R. Adam I. Spier B. Zhao M. Kloth J. Marquez I. Hinrichsen J. Kirfel A. Tafazzoli S. Horpaopan S. Uhlhaas D. Stienen N. Friedrichs J. Altmüller A. Laner S. Holzapfel S. Peters K. Kayser H. Thiele E. Holinski-Feder G. Marra G. Kristiansen M.M. Nöthen R. Büttner G. Möslein R.C. Betz A. Brieger R.P. Lifton S. Aretz August 01, 2016 / Biol Chem A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product J. Altmüller S. Motameny C. Becker H. Thiele S. Chatterjee B. Wollnik P. Nürnberg February 25, 2016 / Blood Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome S. Ammann A. Schulz I. Krägeloh-Mann N.M.G. Dieckmann K. Niethammer S. Fuchs K.M. Eckl R. Plank R. Werner J. Altmüller H. Thiele P. Nürnberg J. Bank A. Strauss H. von Bernuth U. Zur Stadt S. Grieve G.M. Griffiths K. Lehmberg H.C. Hennies S. Ehl March 15, 2016 / Hum Mol Genet Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS M.P. Bartram S. Habbig C. Pahmeyer M. Höhne L.T. Weber H. Thiele J. Altmüller N. Kottoor A. Wenzel M. Krueger B. Schermer T. Benzing M.M. Rinschen B.B. Beck October 01, 2016 / Am J Med Genet A Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome N. Di Donato A. Kuechler S. Vergano W. Heinritz J. Bodurtha S.R. Merchant G. Breningstall R. Ladda S. Sell J. Altmüller N. Bögershausen A.E. Timms K. Hackmann E. Schrock S. Collins C. Olds A. Rump W.B. Dobyns June 01, 2016 / J Med Genet Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt N. Di Donato T. Neuhann A.K. Kahlert B. Klink K. Hackmann I. Neuhann B. Novotna J. Schallner C. Krause I.A. Glass S.E. Parnell A. Benet-Pages A.M. Nissen W. Berger J. Altmüller H. Thiele B.H.F. Weber E. Schrock W.B. Dobyns A. Bier A. Rump August 30, 2016 / Sci Rep Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18 C. Flegel F. Vogel A. Hofreuter S. Wojcik C. Schoeder K. Kieć-Kononowicz N.H. Brockmeyer C.E. Müller C. Becker J. Altmüller H. Hatt G. Gisselmann March 01, 2016 / Ann Neurol Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation E. Gardella F. Becker R.S. Møller J. Schubert J.R. Lemke L.H.G. Larsen H. Eiberg M. Nothnagel H. Thiele J. Altmüller S. Syrbe A. Merkenschlager T. Bast B. Steinhoff P. Nürnberg Y. Mang L. Bakke Møller P. Gellert S.E. Heron L.M. Dibbens S. Weckhuysen H.A. Dahl S. Biskup N. Tommerup H. Hjalgrim H. Lerche S. Beniczky Y.G. Weber Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
September 15, 2020 / Circulation Intronic CRISPR repair in a preclinical model of Noonan syndrome-associated cardiomyopathy U. Hanses M. Kleinsorge L. Roos G. Yigit Y. Li B. Barbarics I. El-Battrawy H. Lan M. Tiburcy R. Hindmarsh C. Lenz G. Salinas S. Diecke C. Müller I. Adham J. Altmüller P. Nürnberg T. Paul W.H. Zimmermann G. Hasenfuss B. Wollnik L. Cyganek
August 01, 2020 / Nat Struct Mol Biol Quantification of translation uncovers the functions of the alternative transcriptome L. Calviello A. Hirsekorn U. Ohler
August 04, 2016 / Am J Hum Genet Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis R. Adam I. Spier B. Zhao M. Kloth J. Marquez I. Hinrichsen J. Kirfel A. Tafazzoli S. Horpaopan S. Uhlhaas D. Stienen N. Friedrichs J. Altmüller A. Laner S. Holzapfel S. Peters K. Kayser H. Thiele E. Holinski-Feder G. Marra G. Kristiansen M.M. Nöthen R. Büttner G. Möslein R.C. Betz A. Brieger R.P. Lifton S. Aretz
August 01, 2016 / Biol Chem A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product J. Altmüller S. Motameny C. Becker H. Thiele S. Chatterjee B. Wollnik P. Nürnberg
February 25, 2016 / Blood Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome S. Ammann A. Schulz I. Krägeloh-Mann N.M.G. Dieckmann K. Niethammer S. Fuchs K.M. Eckl R. Plank R. Werner J. Altmüller H. Thiele P. Nürnberg J. Bank A. Strauss H. von Bernuth U. Zur Stadt S. Grieve G.M. Griffiths K. Lehmberg H.C. Hennies S. Ehl
March 15, 2016 / Hum Mol Genet Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS M.P. Bartram S. Habbig C. Pahmeyer M. Höhne L.T. Weber H. Thiele J. Altmüller N. Kottoor A. Wenzel M. Krueger B. Schermer T. Benzing M.M. Rinschen B.B. Beck
October 01, 2016 / Am J Med Genet A Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome N. Di Donato A. Kuechler S. Vergano W. Heinritz J. Bodurtha S.R. Merchant G. Breningstall R. Ladda S. Sell J. Altmüller N. Bögershausen A.E. Timms K. Hackmann E. Schrock S. Collins C. Olds A. Rump W.B. Dobyns
June 01, 2016 / J Med Genet Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt N. Di Donato T. Neuhann A.K. Kahlert B. Klink K. Hackmann I. Neuhann B. Novotna J. Schallner C. Krause I.A. Glass S.E. Parnell A. Benet-Pages A.M. Nissen W. Berger J. Altmüller H. Thiele B.H.F. Weber E. Schrock W.B. Dobyns A. Bier A. Rump
August 30, 2016 / Sci Rep Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18 C. Flegel F. Vogel A. Hofreuter S. Wojcik C. Schoeder K. Kieć-Kononowicz N.H. Brockmeyer C.E. Müller C. Becker J. Altmüller H. Hatt G. Gisselmann
March 01, 2016 / Ann Neurol Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation E. Gardella F. Becker R.S. Møller J. Schubert J.R. Lemke L.H.G. Larsen H. Eiberg M. Nothnagel H. Thiele J. Altmüller S. Syrbe A. Merkenschlager T. Bast B. Steinhoff P. Nürnberg Y. Mang L. Bakke Møller P. Gellert S.E. Heron L.M. Dibbens S. Weckhuysen H.A. Dahl S. Biskup N. Tommerup H. Hjalgrim H. Lerche S. Beniczky Y.G. Weber