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. (2) Akalin, Altuna Dr. (1) Birchmeier, Walter Prof. Dr. (1) Birchmeier-Kohler, Carmen Prof. Dr. (2) Blachut, Susanne (1) Braeuning, Caroline (1) Chekulaeva, Marina Dr. (1) Chen, Wei Prof. Dr. (2) Conrad, Thomas Dr. (1) Diecke, Sebastian Dr. (1) Fischer, Cornelius Dr. (4) Franke, Vedran Dr. (1) Gotthardt, Michael Prof. Dr. (1) Graf, Robin Dr. (3) Heinemann, Udo Prof. Dr. (1) Herzog, Margareta (1) Hirsekorn, Antje (1) Hübner, Norbert Prof. Dr. (2) Hummel, Oliver (1) Kastelic, Nicolai (1) Kempa, Stefan Dr. (2) Kirchner, Marieluise Dr. (2) Kocks, Christine Dr. (2) Kühn, Ralf Dr. (18) Lahmann, Ines Dr. (2) Landthaler, Markus Prof. Dr. (17) Lindberg, Eric Lars-Helge (1) Maatz, Henrike Dr. (2) Mastrobuoni, Guido Dr. (2) Mertins, Philipp Dr. (1) Müller, Marion (1) Obermayer-Wasserscheid, Benedikt Dr. (2) Ohler, Uwe Prof. Dr. (3) Patone, Giannino Dr. (1) Preibisch, Stephan Dr. (1) Radke, Michael Dr. (1) Rajewsky, Klaus Prof. Dr. (7) Rajewsky, Nikolaus Prof. Dr. (6) Roßius, Jana (1) Rybak-Wolf, Agnieszka Dr. (1) Schütz, Anja Dr. (1) Selbach, Matthias Prof. Dr. (3) Sigal, Michael Dr. (1) Spuler, Simone Prof. (1) Sunaga-Franze, Daniele Yumi Dr. (1) Trombke, Janine (1) Wolf, Jana Prof. Dr. (1) Zauber, Henrik Dr. (1) (-) Altmueller, Janine Dr.med. (75) (-) Chu, Van Trung Dr. (6) (-) Harabula, Izabela-Cezara (2) (-) Lupianez Garcia, Dario Jesus Dr. (1) (-) Pempe, Jenniffer (1) (-) Wyler, Emanuel Dr. (4) 2002 (1) 2005 (2) 2012 (2) 2013 (12) (-) 2014 (16) 2015 (29) (-) 2016 (32) 2017 (36) 2018 (39) (-) 2019 (37) 2020 (29) 2021 (63) 2022 (51) 2023 (30) 2024 (13) Bioinformatics and Omics Data Science (1) Cellular Neurosciences (6) Computational Regulatory Genomics (2) Developmental Neurobiology (1) Experimental Ultrahigh-Field MR (6) Genetics and Genomics of Cardiovascular Diseases (1) Genetics of Congenital Heart Disease (1) Genetics of Metabolic and Reproductive Disorders (3) (-) Genome Engineering & Disease Models (6) (-) Genomics (75) Immune Regulation and Cancer (9) Magnetic Resonance (6) Pluripotent Stem Cells (1) Proteome Dynamics (1) Proteomics (2) Psychoneuroimmunology (1) (-) RNA Biology and Posttranscriptional Regulation (4) Systems Biology of Gene Regulatory Elements (3) Transgenics (6) Translational Bioinformatics (1) 85 Results: Active Filter: Altmueller, Janine Dr.med.Chu, Van Trung Dr.Harabula, Izabela-CezaraLupianez Garcia, Dario Jesus Dr.Pempe, JennifferWyler, Emanuel Dr.Genome Engineering & Disease ModelsGenomicsRNA Biology and Posttranscriptional Regulation201420162019 Sort: Result score Newest to oldest Oldest to newest 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 October, 2019 / FASEB J Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration M.N. Preising B. Görg C. Friedburg N. Qvartskhava B.S. Budde M. Bonus M.R. Toliat C. Pfleger J. Altmüller D. Herebian M. Beyer H.J. Zöllner H.J. Wittsack J. Schaper D. Klee U. Zechner P. Nürnberg J. Schipper A. Schnitzler H. Gohlke B. Lorenz D. Häussinger H.J. Bolz November, 2019 / Eur J Hum Genet Assessment of genetic variant burden in epilepsy-associated brain lesions L.M. Niestroj P. May M. Artomov K. Kobow R. Coras E. Pérez-Palma J. Altmüller H. Thiele P. Nürnberg C. Leu A. Palotie M.J. Daly K.M. Klein R. Beschorner Y.G. Weber I. Blümcke D. Lal October 03, 2019 / Am J Hum Genet Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S. Moosa G.L. Yamamoto L. Garbes K. Keupp A. Beleza-Meireles C.A. Moreno E.R. Valadares S.B. de Sousa S. Maia J. Saraiva R.S. Honjo C.A. Kim H. Cabral de Menezes E. Lausch P.V. Lorini A. Lamounier T.C.B. Carniero C. Giunta M. Rohrbach M. Janner O. Semler F. Beleggia Y. Li G. Yigit N. Reintjes J. Altmüller P. Nürnberg D.P. Cavalcanti B. Zabel M.L. Warman D.R. Bertola B. Wollnik C. Netzer August 20, 2019 / Nat Commun Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids N. Alcala N. Leblay A.A.G. Gabriel L. Mangiante D. Hervas T. Giffon A.S. Sertier A. Ferrari J. Derks A. Ghantous T.M. Delhomme A. Chabrier C. Cuenin B. Abedi-Ardekani A. Boland R. Olaso V. Meyer J. Altmuller F. Le Calvez-Kelm G. Durand C. Voegele S. Boyault L. Moonen N. Lemaitre P. Lorimier A.C. Toffart A. Soltermann J.H. Clement J. Saenger J.K. Field M. Brevet C. Blanc-Fournier F. Galateau-Salle N. Le Stang P.A. Russell G. Wright G. Sozzi U. Pastorino S. Lacomme J.M. Vignaud V. Hofman P. Hofman O.T. Brustugun M. Lund-Iversen V. Thomas de Montpreville L.A. Muscarella P. Graziano H. Popper J. Stojsic J.F. Deleuze Z. Herceg A. Viari P. Nuernberg G. Pelosi A.M.C. Dingemans M. Milione L. Roz L. Brcic M. Volante M.G. Papotti C. Caux J. Sandoval H. Hernandez-Vargas E. Brambilla E.J.M. Speel N. Girard S. Lantuejoul J.D. McKay M. Foll L. Fernandez-Cuesta June 11, 2019 / Sci Rep Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis A. Lindner F. Marbach S. Tschernitz C. Ortner M. Berneburg O. Felthaus L. Prantl M.J. Kye G. Rappl J. Altmüller H. Thiele S. Schreml J. Schreml June 06, 2019 / Am J Hum Genet Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome C.K. Bauer P.E. Schneeberger F. Kortüm J. Altmüller F. Santos-Simarro L. Baker J. Keller-Ramey S.M. White P.M. Campeau K.W. Gripp K. Kutsche August 01, 2019 / Am J Hum Genet Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y. Murakami T.T.M. Nguyen N. Baratang P.K. Raju A. Knaus S. Ellard G. Jones B. Lace J. Rousseau N.F. Ajeawung A. Kamei G. Minase M. Akasaka N. Araya E. Koshimizu J. van den Ende F. Erger J. Altmüller Z. Krumina J. Strautmanis I. Inashkina J. Stavusis A. El-Gharbawy J. Sebastian R.D. Puri S. Kulshrestha I.C. Verma E.M. Maier T.B. Haack A. Israni J. Baptista A. Gunning J.A Rosenfeld P. Liu M. Joosten M.E. Rocha M.O. Hashem H.M. Aldhalaan F.S. Alkuraya S. Miyatake N. Matsumoto P.M. Krawitz E. Rossignol T. Kinoshita P.M. Campeau September, 2019 / Ann Neurol SSBP1 mutations in dominant optic atrophy with variable retinal degeneration N. Jurkute C. Leu H.M. Pogoda G. Arno A.G. Robson G. Nürnberg J. Altmüller H. Thiele S. Motameny M.R. Toliat K. Powell W. Höhne M. Michaelides A.R. Webster A.T. Moore M. Hammerschmidt P. Nürnberg P. Yu-Wai-Man M. Votruba August, 2019 / J Hum Genet Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia H.S. Dafsari R. Sprute G. Wunderlich H.S. Daimagüler E. Karaca A. Contreras K. Becker M. Schulze-Rhonhof K. Kiening T. Karakulak M. Kloss A. Horn A. Pauls P. Nürnberg J. Altmüller H. Thiele B. Assmann A. Koy S. Cirak Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
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
October, 2019 / FASEB J Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration M.N. Preising B. Görg C. Friedburg N. Qvartskhava B.S. Budde M. Bonus M.R. Toliat C. Pfleger J. Altmüller D. Herebian M. Beyer H.J. Zöllner H.J. Wittsack J. Schaper D. Klee U. Zechner P. Nürnberg J. Schipper A. Schnitzler H. Gohlke B. Lorenz D. Häussinger H.J. Bolz
November, 2019 / Eur J Hum Genet Assessment of genetic variant burden in epilepsy-associated brain lesions L.M. Niestroj P. May M. Artomov K. Kobow R. Coras E. Pérez-Palma J. Altmüller H. Thiele P. Nürnberg C. Leu A. Palotie M.J. Daly K.M. Klein R. Beschorner Y.G. Weber I. Blümcke D. Lal
October 03, 2019 / Am J Hum Genet Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S. Moosa G.L. Yamamoto L. Garbes K. Keupp A. Beleza-Meireles C.A. Moreno E.R. Valadares S.B. de Sousa S. Maia J. Saraiva R.S. Honjo C.A. Kim H. Cabral de Menezes E. Lausch P.V. Lorini A. Lamounier T.C.B. Carniero C. Giunta M. Rohrbach M. Janner O. Semler F. Beleggia Y. Li G. Yigit N. Reintjes J. Altmüller P. Nürnberg D.P. Cavalcanti B. Zabel M.L. Warman D.R. Bertola B. Wollnik C. Netzer
August 20, 2019 / Nat Commun Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids N. Alcala N. Leblay A.A.G. Gabriel L. Mangiante D. Hervas T. Giffon A.S. Sertier A. Ferrari J. Derks A. Ghantous T.M. Delhomme A. Chabrier C. Cuenin B. Abedi-Ardekani A. Boland R. Olaso V. Meyer J. Altmuller F. Le Calvez-Kelm G. Durand C. Voegele S. Boyault L. Moonen N. Lemaitre P. Lorimier A.C. Toffart A. Soltermann J.H. Clement J. Saenger J.K. Field M. Brevet C. Blanc-Fournier F. Galateau-Salle N. Le Stang P.A. Russell G. Wright G. Sozzi U. Pastorino S. Lacomme J.M. Vignaud V. Hofman P. Hofman O.T. Brustugun M. Lund-Iversen V. Thomas de Montpreville L.A. Muscarella P. Graziano H. Popper J. Stojsic J.F. Deleuze Z. Herceg A. Viari P. Nuernberg G. Pelosi A.M.C. Dingemans M. Milione L. Roz L. Brcic M. Volante M.G. Papotti C. Caux J. Sandoval H. Hernandez-Vargas E. Brambilla E.J.M. Speel N. Girard S. Lantuejoul J.D. McKay M. Foll L. Fernandez-Cuesta
June 11, 2019 / Sci Rep Calcyphosine-like (CAPSL) is regulated in multiple symmetric lipomatosis and is involved in adipogenesis A. Lindner F. Marbach S. Tschernitz C. Ortner M. Berneburg O. Felthaus L. Prantl M.J. Kye G. Rappl J. Altmüller H. Thiele S. Schreml J. Schreml
June 06, 2019 / Am J Hum Genet Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome C.K. Bauer P.E. Schneeberger F. Kortüm J. Altmüller F. Santos-Simarro L. Baker J. Keller-Ramey S.M. White P.M. Campeau K.W. Gripp K. Kutsche
August 01, 2019 / Am J Hum Genet Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y. Murakami T.T.M. Nguyen N. Baratang P.K. Raju A. Knaus S. Ellard G. Jones B. Lace J. Rousseau N.F. Ajeawung A. Kamei G. Minase M. Akasaka N. Araya E. Koshimizu J. van den Ende F. Erger J. Altmüller Z. Krumina J. Strautmanis I. Inashkina J. Stavusis A. El-Gharbawy J. Sebastian R.D. Puri S. Kulshrestha I.C. Verma E.M. Maier T.B. Haack A. Israni J. Baptista A. Gunning J.A Rosenfeld P. Liu M. Joosten M.E. Rocha M.O. Hashem H.M. Aldhalaan F.S. Alkuraya S. Miyatake N. Matsumoto P.M. Krawitz E. Rossignol T. Kinoshita P.M. Campeau
September, 2019 / Ann Neurol SSBP1 mutations in dominant optic atrophy with variable retinal degeneration N. Jurkute C. Leu H.M. Pogoda G. Arno A.G. Robson G. Nürnberg J. Altmüller H. Thiele S. Motameny M.R. Toliat K. Powell W. Höhne M. Michaelides A.R. Webster A.T. Moore M. Hammerschmidt P. Nürnberg P. Yu-Wai-Man M. Votruba
August, 2019 / J Hum Genet Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia H.S. Dafsari R. Sprute G. Wunderlich H.S. Daimagüler E. Karaca A. Contreras K. Becker M. Schulze-Rhonhof K. Kiening T. Karakulak M. Kloss A. Horn A. Pauls P. Nürnberg J. Altmüller H. Thiele B. Assmann A. Koy S. Cirak