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) Birchmeier-Kohler, Carmen Prof. Dr. (1) Chu, Van Trung Dr. (2) Conrad, Thomas Dr. (1) Diecke, Sebastian Dr. (1) Fischer, Cornelius Dr. (3) Gerhardt, Holger Prof. Dr. (1) Graf, Robin Dr. (2) Haucke, Volker Professor (2) Kirchner, Marieluise Dr. (1) Klaassen, Sabine Prof. Dr. med. (6) Kühn, Ralf Dr. (12) Lee, Young-Ae Prof. Dr. (1) Marenholz, Ingo Dr. (1) Rajewsky, Klaus Prof. Dr. (2) Rathjen, Fritz Prof. Dr. (1) Rudolph, Ina-Maria Dr. (1) Selbach, Matthias Prof. Dr. (1) Uyar, Bora Dr. (1) Willnow, Thomas Prof. Dr. (1) Zauber, Henrik Dr. (1) (-) Altmueller, Janine Dr.med. (84) (-) Harabula, Izabela-Cezara (2) (-) Lupianez Garcia, Dario Jesus Dr. (1) (-) Sperling, Silke Prof. Dr. (1) 2002 (1) 2005 (2) 2011 (1) 2013 (13) (-) 2014 (17) 2015 (24) (-) 2016 (30) 2017 (31) (-) 2018 (39) 2019 (33) 2020 (26) 2021 (48) 2022 (38) 2023 (19) 2024 (6) Cellular Neurosciences (5) Computational Regulatory Genomics (1) Developmental Neurobiology (1) Epigenetic Regulation and Chromatin Architecture (1) Experimental Ultrahigh-Field MR (8) (-) Genetics of Congenital Heart Disease (1) Genetics of Metabolic and Reproductive Disorders (4) (-) Genome Engineering & Disease Models (1) (-) Genomics (84) Immune Regulation and Cancer (1) Magnetic Resonance (8) Molecular Genetics of Chronic Inflammation and Allergic Disease (1) Out-patient Clinic for Pediatric Allergology and Atopic Dermatitis (1) Proteome Dynamics (1) Proteomics and Molecular Mechanisms of Neurodegenerative Diseases (1) RNA Biology and Posttranscriptional Regulation (1) Transgenics (1) 86 Results: Active Filter: Altmueller, Janine Dr.med.Harabula, Izabela-CezaraLupianez Garcia, Dario Jesus Dr.Sperling, Silke Prof. Dr.Genetics of Congenital Heart DiseaseGenome Engineering & Disease ModelsGenomics201420162018 Sort: Result score Newest to oldest Oldest to newest March 13, 2018 / Nat Commun Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors J. George V. Walter M. Peifer L.B. Alexandrov D. Seidel F. Leenders L. Maas C. Müller I. Dahmen T.M. Delhomme M. Ardin N. Leblay G. Byrnes R. Sun A. De Reynies A. McLeer-Florin G. Bosco F. Malchers R. Menon J. Altmüller C. Becker P. Nürnberg V. Achter U. Lang P.M. Schneider M. Bogus M.G. Soloway M.D. Wilkerson Y. Cun J.D. McKay D. Moro-Sibilot C.G. Brambilla S. Lantuejoul N. Lemaitre A. Soltermann W. Weder V. Tischler O.T. Brustugun M. Lund-Iversen Å. Helland S. Solberg S. Ansén G. Wright B. Solomon L. Roz U. Pastorino I. Petersen J.H. Clement J. Sänger J. Wolf M. Vingron T. Zander S. Perner W.D. Travis S.A. Haas M. Olivier M. Foll R. Büttner D.N. Hayes E. Brambilla L. Fernandez-Cuesta R.K. Thomas May 21, 2018 / Sci Rep Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy I.C.G. Gonçalves J. Brecht M.P. Thelen W.A. Rehorst M. Peters H.J. Lee S. Motameny L. Torres-Benito D. Ebrahimi-Fakhari N.L. Kononenko J. Altmüller D. Vilchez M. Sahin B. Wirth M.J. Kye April, 2018 / Canc Med Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer J. Hauke J. Horvath E. Groß A. Gehrig E. Honisch K. Hackmann G. Schmidt N. Arnold U. Faust C. Sutter J. Hentschel S. Wang-Gohrke M. Smogavec B.H.F. Weber N. Weber-Lassalle K. Weber-Lassalle J. Borde C. Ernst J. Altmüller A.E. Volk H. Thiele V. Hübbel P. Nürnberg K. Keupp B. Versmold E. Pohl C. Kubisch S. Grill V. Paul N. Herold N. Lichey K. Rhiem N. Ditsch C. Ruckert B. Wappenschmidt B. Auber A. Rump D. Niederacher T. Haaf J. Ramser B. Dworniczak C. Engel A. Meindl R.K. Schmutzler E. Hahnen February, 2018 / Eur J Hum Genet Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy D.R. Bobbili D. Lal P. May E.M. Reinthaler K. Jabbari H. Thiele M. Nothnagel W. Jurkowski M. Feucht P. Nürnberg H. Lerche F. Zimprich R. Krause B.A. Neubauer E.M. Reinthaler F. Zimprich M. Feucht H. Steinböck B. Neophytou J. Geldner U. Gruber-Sedlmayr E. Haberlandt G.M. Ronen J. Altmüller D. Lal P. Nürnberg T. Sander H. Thiele R. Krause P. May R. Balling H. Lerche B.A. Neubauer September 06, 2018 / Am J Hum Genet Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome S.G. Ghosh K. Becker H. Huang T. Dixon-Salazar G. Chai V. Salpietro L. Al-Gazali Q. Waisfisz H. Wang K.K. Vaux V. Stanley A. Manole U. Akpulat M.M. Weiss S. Efthymiou M.G. Hanna C. Minetti P. Striano L. Pisciotta E. De Grandis J. Altmüller L. Weixler P. Nürnberg H. Thiele U. Yis T.D. Okur A.I. Polat N. Amiri M. Doosti E.G. Karimani M.B. Toosi G. Haddad M. Karakaya B. Wirth J.M. van Hagen N.I. Wolf R. Maroofian H. Houlden S. Cirak J.G. Gleeson January 08, 2018 / Br J Dermatol Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura D.J. Ralser G.G. Lestringant A. Du-Thanh P. Kokordelis J. Fischer F.B.Ü. Basmanav S. Wolf H. Thiele J. Altmüller P. Nürnberg V. Oji G. Fritz J. Frank R.C. Betz December 13, 2016 / Breast Cancer-Targets Ther Expression and functionality of TRPV1 in breast cancer cells L.V. Weber K. Al-Refae G. Wölk G. Bonatz J. Altmüller C. Becker G. Gisselmann H. Hatt March 01, 2018 / Am J Hum Genet Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome G. Vasileiou S. Vergarajauregui S. Endele B. Popp C. Büttner A.B. Ekici M. Gerard N.C. Bramswig B. Albrecht J. Clayton-Smith J. Morton S. Tomkins K. Low A. Weber M. Wenzel J. Altmüller Y. Li B. Wollnik G. Hoganson M.R. Plona M.T. Cho C.T. Thiel H.J. Lüdecke T.M. Strom E. Calpena A.O.M. Wilkie D. Wieczorek F.B. Engel A. Reis February 15, 2018 / Nat Commun Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL A. Schrader G. Crispatzu S. Oberbeck P. Mayer S. Pützer J. von Jan E. Vasyutina K. Warner N. Weit N. Pflug T. Braun E.I. Andersson B. Yadav A. Riabinska B. Maurer M.S. Ventura Ferreira F. Beier J. Altmüller M. Lanasa C.D. Herling T. Haferlach S. Stilgenbauer G. Hopfinger M. Peifer T.H. Brümmendorf P. Nürnberg K.S.J. Elenitoba-Johnson S. Zha M. Hallek R. Moriggl H.C. Reinhardt M.H. Stern S. Mustjoki S. Newrzela P. Frommolt M. Herling March 08, 2018 / Sci Rep Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations A. Wenzel J. Altmueller A.B. Ekici B. Popp K. Stueber H. Thiele A. Pannes S. Staubach E. Salido P. Nuernberg R. Reinhardt A. Reis P. Rump F.G. Hanisch M.T.F. Wolf M. Wiesener B. Huettel B.B. Beck Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
March 13, 2018 / Nat Commun Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors J. George V. Walter M. Peifer L.B. Alexandrov D. Seidel F. Leenders L. Maas C. Müller I. Dahmen T.M. Delhomme M. Ardin N. Leblay G. Byrnes R. Sun A. De Reynies A. McLeer-Florin G. Bosco F. Malchers R. Menon J. Altmüller C. Becker P. Nürnberg V. Achter U. Lang P.M. Schneider M. Bogus M.G. Soloway M.D. Wilkerson Y. Cun J.D. McKay D. Moro-Sibilot C.G. Brambilla S. Lantuejoul N. Lemaitre A. Soltermann W. Weder V. Tischler O.T. Brustugun M. Lund-Iversen Å. Helland S. Solberg S. Ansén G. Wright B. Solomon L. Roz U. Pastorino I. Petersen J.H. Clement J. Sänger J. Wolf M. Vingron T. Zander S. Perner W.D. Travis S.A. Haas M. Olivier M. Foll R. Büttner D.N. Hayes E. Brambilla L. Fernandez-Cuesta R.K. Thomas
May 21, 2018 / Sci Rep Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy I.C.G. Gonçalves J. Brecht M.P. Thelen W.A. Rehorst M. Peters H.J. Lee S. Motameny L. Torres-Benito D. Ebrahimi-Fakhari N.L. Kononenko J. Altmüller D. Vilchez M. Sahin B. Wirth M.J. Kye
April, 2018 / Canc Med Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer J. Hauke J. Horvath E. Groß A. Gehrig E. Honisch K. Hackmann G. Schmidt N. Arnold U. Faust C. Sutter J. Hentschel S. Wang-Gohrke M. Smogavec B.H.F. Weber N. Weber-Lassalle K. Weber-Lassalle J. Borde C. Ernst J. Altmüller A.E. Volk H. Thiele V. Hübbel P. Nürnberg K. Keupp B. Versmold E. Pohl C. Kubisch S. Grill V. Paul N. Herold N. Lichey K. Rhiem N. Ditsch C. Ruckert B. Wappenschmidt B. Auber A. Rump D. Niederacher T. Haaf J. Ramser B. Dworniczak C. Engel A. Meindl R.K. Schmutzler E. Hahnen
February, 2018 / Eur J Hum Genet Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy D.R. Bobbili D. Lal P. May E.M. Reinthaler K. Jabbari H. Thiele M. Nothnagel W. Jurkowski M. Feucht P. Nürnberg H. Lerche F. Zimprich R. Krause B.A. Neubauer E.M. Reinthaler F. Zimprich M. Feucht H. Steinböck B. Neophytou J. Geldner U. Gruber-Sedlmayr E. Haberlandt G.M. Ronen J. Altmüller D. Lal P. Nürnberg T. Sander H. Thiele R. Krause P. May R. Balling H. Lerche B.A. Neubauer
September 06, 2018 / Am J Hum Genet Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome S.G. Ghosh K. Becker H. Huang T. Dixon-Salazar G. Chai V. Salpietro L. Al-Gazali Q. Waisfisz H. Wang K.K. Vaux V. Stanley A. Manole U. Akpulat M.M. Weiss S. Efthymiou M.G. Hanna C. Minetti P. Striano L. Pisciotta E. De Grandis J. Altmüller L. Weixler P. Nürnberg H. Thiele U. Yis T.D. Okur A.I. Polat N. Amiri M. Doosti E.G. Karimani M.B. Toosi G. Haddad M. Karakaya B. Wirth J.M. van Hagen N.I. Wolf R. Maroofian H. Houlden S. Cirak J.G. Gleeson
January 08, 2018 / Br J Dermatol Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura D.J. Ralser G.G. Lestringant A. Du-Thanh P. Kokordelis J. Fischer F.B.Ü. Basmanav S. Wolf H. Thiele J. Altmüller P. Nürnberg V. Oji G. Fritz J. Frank R.C. Betz
December 13, 2016 / Breast Cancer-Targets Ther Expression and functionality of TRPV1 in breast cancer cells L.V. Weber K. Al-Refae G. Wölk G. Bonatz J. Altmüller C. Becker G. Gisselmann H. Hatt
March 01, 2018 / Am J Hum Genet Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome G. Vasileiou S. Vergarajauregui S. Endele B. Popp C. Büttner A.B. Ekici M. Gerard N.C. Bramswig B. Albrecht J. Clayton-Smith J. Morton S. Tomkins K. Low A. Weber M. Wenzel J. Altmüller Y. Li B. Wollnik G. Hoganson M.R. Plona M.T. Cho C.T. Thiel H.J. Lüdecke T.M. Strom E. Calpena A.O.M. Wilkie D. Wieczorek F.B. Engel A. Reis
February 15, 2018 / Nat Commun Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL A. Schrader G. Crispatzu S. Oberbeck P. Mayer S. Pützer J. von Jan E. Vasyutina K. Warner N. Weit N. Pflug T. Braun E.I. Andersson B. Yadav A. Riabinska B. Maurer M.S. Ventura Ferreira F. Beier J. Altmüller M. Lanasa C.D. Herling T. Haferlach S. Stilgenbauer G. Hopfinger M. Peifer T.H. Brümmendorf P. Nürnberg K.S.J. Elenitoba-Johnson S. Zha M. Hallek R. Moriggl H.C. Reinhardt M.H. Stern S. Mustjoki S. Newrzela P. Frommolt M. Herling
March 08, 2018 / Sci Rep Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations A. Wenzel J. Altmueller A.B. Ekici B. Popp K. Stueber H. Thiele A. Pannes S. Staubach E. Salido P. Nuernberg R. Reinhardt A. Reis P. Rump F.G. Hanisch M.T.F. Wolf M. Wiesener B. Huettel B.B. Beck