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) Bader, Michael Prof. Dr. (1) Bähring, Sylvia Dr. (1) Barke, Niclas (1) Bartolomaeus, Theda (1) Beule, Dieter Dr. (2) Blume, Alexander Dr. (1) Borodina, Tatiana Dr. (4) Braeuning, Caroline (2) Conrad, Thomas Dr. (5) Deter, Aylina (1) Diecke, Sebastian Dr. (2) Escobar Fernandez, Helena Dr. (1) Faxel, Miriam (1) Forslund, Sofia Dr. (1) Franke, Vedran Dr. (1) Freimuth, Jonas (1) Heuser, Arnd Dr. (1) Hübner, Norbert Prof. Dr. (1) Klußmann, Enno PD Dr. (1) Landthaler, Markus Prof. Dr. (2) Langanki, Reika (1) Lee, Young-Ae Prof. Dr. (1) Leutz, Achim Prof. Dr. (1) Liu, Tiannan (1) Marenholz, Ingo Dr. (1) Marko, Lajos Dr. (1) Müller, Dominik Prof. Dr. (1) Napieczynska, Hanna Dr. (1) Obermayer-Wasserscheid, Benedikt Dr. (2) Popova, Elena Dr. (1) Qadri, Fatimunnisa Dr. (1) Quedenau, Claudia (3) Rajewsky, Nikolaus Prof. Dr. (1) Sholokh, Anastasiia (1) Spuler, Simone Prof. (1) Sunaga-Franze, Daniele Yumi Dr. (2) Taube, Martin (1) Teixeira Alves, Luiz Gustavo Dr. (1) Uyar, Bora Dr. (1) Wendlinger, Sarah (1) Wurmus, Ricardo (1) Wyler, Emanuel Dr. (2) Zimmermann, Karin Dr. (1) Zühlke, Kerstin Dr. (1) (-) Altmueller, Janine Dr.med. (75) (-) Fischer, Cornelius Dr. (5) 2002 (1) 2005 (2) 2014 (7) 2015 (24) 2016 (30) 2017 (32) (-) 2018 (41) 2019 (33) 2020 (27) 2021 (47) (-) 2022 (39) 2023 (20) 2024 (2) AG Müller/Dechend (ECRC) (1) Bioinformatics and Omics Data Science (4) Computational Regulatory Genomics (6) Epigenetic Regulation and Chromatin Architecture (1) Experimental Ultrahigh-Field MR (2) Genetics and Genomics of Cardiovascular Diseases (1) (-) Genomics (80) Hypertension-caused End-Organ Damage (1) Hypertension-Mediated End-Organ Damage (1) Magnetic Resonance (2) Microenvironmental Regulation in Autoimmunity and Cancer (1) Molecular Genetics of Chronic Inflammation and Allergic Disease (1) Out-patient Clinic for Pediatric Allergology and Atopic Dermatitis (1) Pluripotent Stem Cells (1) Proteome Dynamics (2) Proteomics (1) Proteomics and Metabolomics (1) Quantitative Developmental Biology (1) RNA Biology and Posttranscriptional Regulation (6) Systems Biology of Gene Regulatory Elements (1) Translational Cardiology and Functional Genomics (1) Translational Tumorimmunology (1) 80 Results: Active Filter: Altmueller, Janine Dr.med.Fischer, Cornelius Dr.Genomics20182022 Sort: Result score Newest to oldest Oldest to newest February 01, 2022 / Am J Med Genet A Genomic basis of syndromic short stature in an Algerian patient cohort S. Moosa F. Chentli J. Altmüller N. Bögershausen P. Nürnberg G. Yigit Y. Li B. Wollnik January 01, 2022 / Am J Med Genet A A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies D. Lessel K. Rading S.E. Campbell H. Thiele J. Altmüller L.B. Gordon C. Kubisch May 16, 2022 / EMBO J Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay D. Wallmeroth J.W. Lackmann S. Kueckelmann J. Altmüller C. Dieterich V. Boehm N.H. Gehring February 01, 2022 / Eur J Hum Genet Familial cleft tongue caused by a unique translation initiation codon variant in TP63 J. Schmidt G. Schreiber J. Altmüller H. Thiele P. Nürnberg Y. Li S. Kaulfuß R. Funke B. Wilken G. Yigit B. Wollnik April 01, 2022 / J Am Soc Nephrol Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution T. Breiderhoff N. Himmerkus L. Meoli A. Fromm S. Sewerin N. Kriuchkova O. Nagel Y. Ladilov S. Krug C. Quintanova M. Stumpp D. Garbe-Schönberg U. Westernströer C. Merkel M. Brinkhus J. Altmüller M. Schweiger D. Mueller K. Mutig M. Morawski J. Halbritter S. Milatz M. Bleich D. Günzel March 01, 2022 / Hum Mutat Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development H.L. Marko N.C. Hornig R.C. Betz P.M. Holterhus J. Altmüller H. Thiele M. Fabiano H.U. Schweikert D. Braun U. Schweizer February 10, 2022 / J Proteomics MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells B. Reusch M.P. Bartram C. Dafinger N. Palacio-Escat A. Wenzel R.A. Fenton J. Saez-Rodriguez B. Schermer T. Benzing J. Altmüller B.B. Beck M.M. Rinschen January 03, 2022 / J Exp Med A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15 A. Patsalos L. Halasz M.A. Medina-Serpas W.K. Berger B. Daniel P. Tzerpos M. Kiss G. Nagy C. Fischer Z. Simandi T. Varga L. Nagy April 01, 2022 / Am J Med Genet A A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family M. Asif I.D. Mocanu U. Abdullah W. Höhne J. Altmüller E.U.H. Makhdoom H. Thiele S.M. Baig P. Nürnberg L. Graul-Neumann M.S. Hussain May 20, 2022 / J Med Genet Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state G. Yigit R. Sheffer M. Daana Y. Li E. Kaygusuz H. Mor-Shakad J. Altmüller P. Nürnberg L. Douiev S. Kaulfuss P. Burfeind B. Wollnik K. Brockmann Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
February 01, 2022 / Am J Med Genet A Genomic basis of syndromic short stature in an Algerian patient cohort S. Moosa F. Chentli J. Altmüller N. Bögershausen P. Nürnberg G. Yigit Y. Li B. Wollnik
January 01, 2022 / Am J Med Genet A A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies D. Lessel K. Rading S.E. Campbell H. Thiele J. Altmüller L.B. Gordon C. Kubisch
May 16, 2022 / EMBO J Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay D. Wallmeroth J.W. Lackmann S. Kueckelmann J. Altmüller C. Dieterich V. Boehm N.H. Gehring
February 01, 2022 / Eur J Hum Genet Familial cleft tongue caused by a unique translation initiation codon variant in TP63 J. Schmidt G. Schreiber J. Altmüller H. Thiele P. Nürnberg Y. Li S. Kaulfuß R. Funke B. Wilken G. Yigit B. Wollnik
April 01, 2022 / J Am Soc Nephrol Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution T. Breiderhoff N. Himmerkus L. Meoli A. Fromm S. Sewerin N. Kriuchkova O. Nagel Y. Ladilov S. Krug C. Quintanova M. Stumpp D. Garbe-Schönberg U. Westernströer C. Merkel M. Brinkhus J. Altmüller M. Schweiger D. Mueller K. Mutig M. Morawski J. Halbritter S. Milatz M. Bleich D. Günzel
March 01, 2022 / Hum Mutat Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development H.L. Marko N.C. Hornig R.C. Betz P.M. Holterhus J. Altmüller H. Thiele M. Fabiano H.U. Schweikert D. Braun U. Schweizer
February 10, 2022 / J Proteomics MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells B. Reusch M.P. Bartram C. Dafinger N. Palacio-Escat A. Wenzel R.A. Fenton J. Saez-Rodriguez B. Schermer T. Benzing J. Altmüller B.B. Beck M.M. Rinschen
January 03, 2022 / J Exp Med A growth factor-expressing macrophage subpopulation orchestrates regenerative inflammation via GDF-15 A. Patsalos L. Halasz M.A. Medina-Serpas W.K. Berger B. Daniel P. Tzerpos M. Kiss G. Nagy C. Fischer Z. Simandi T. Varga L. Nagy
April 01, 2022 / Am J Med Genet A A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family M. Asif I.D. Mocanu U. Abdullah W. Höhne J. Altmüller E.U.H. Makhdoom H. Thiele S.M. Baig P. Nürnberg L. Graul-Neumann M.S. Hussain
May 20, 2022 / J Med Genet Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state G. Yigit R. Sheffer M. Daana Y. Li E. Kaygusuz H. Mor-Shakad J. Altmüller P. Nürnberg L. Douiev S. Kaulfuss P. Burfeind B. Wollnik K. Brockmann