Scientific Publications Search Search Author Impact Factor Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Fischer, Cornelius Dr. (1) Graf, Robin Dr. (2) Haucke, Volker Professor (1) Kühn, Ralf Dr. (10) Rajewsky, Klaus Prof. Dr. (2) (-) Altmueller, Janine Dr.med. (45) (-) Chu, Van Trung Dr. (2) (-) Harabula, Izabela-Cezara (2) (-) Klaassen, Sabine Prof. Dr. med. (5) (-) Lupianez Garcia, Dario Jesus Dr. (1) (-) Sperling, Silke Prof. Dr. (1) 2002 (2) 2003 (1) 2004 (2) 2005 (2) 2006 (3) 2008 (2) 2009 (1) 2011 (2) 2012 (4) 2013 (25) (-) 2014 (18) 2015 (30) (-) 2016 (34) 2017 (33) 2018 (40) 2019 (39) 2020 (27) 2021 (54) 2022 (49) 2023 (27) 2024 (8) Cellular Neurosciences (3) Computational Regulatory Genomics (1) Developmental Neurobiology (1) Experimental Ultrahigh-Field MR (6) (-) Genetics of Congenital Heart Disease (5) Genetics of Metabolic and Reproductive Disorders (1) (-) Genome Engineering & Disease Models (2) (-) Genomics (45) Immune Regulation and Cancer (3) Magnetic Resonance (6) Proteome Dynamics (1) RNA Biology and Posttranscriptional Regulation (1) Transgenics (2) 52 Results: Active Filter: Altmueller, Janine Dr.med.Chu, Van Trung Dr.Harabula, Izabela-CezaraKlaassen, Sabine Prof. Dr. med.Lupianez Garcia, Dario Jesus Dr.Sperling, Silke Prof. Dr.Genetics of Congenital Heart DiseaseGenome Engineering & Disease ModelsGenomics20142016 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 January, 2016 / PLoS ONE Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing D. Lal B.A. Neubauer M.R. Toliat J. Altmüller H. Thiele P. Nürnberg C. Kamrath A. Schänzer T. Sander A. Hahn M. Nothnagel July 08, 2016 / PLoS ONE Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations A. Tiwari J. Lemke J. Altmüller H. Thiele E. Glaus J. Fleischhauer P. Nürnberg J. Neidhardt W. Berger November 04, 2016 / Sci Rep The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family C. Reiff M. Owczarek-Lipska G. Spital C. Röger H. Hinz C. Jüschke H. Thiele J. Altmüller P. Nürnberg R. Da Costa J. Neidhardt September, 2016 / Am J Med Genet A A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival S. Moosa V. Fano M.G. Obregon J. Altmüller H. Thiele P. Nürnberg G. Nishimura B. Wollnik August, 2016 / Acta Neuropathol Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy E. Volmering P. Niehusmann V. Peeva A. Grote G. Zsurka J. Altmüller P. Nürnberg A.J. Becker S. Schoch C.E. Elger W.S. Kunz December 02, 2016 Left ventricular noncompaction Y.M. Hoedemaekers S. Klaassen June, 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 December 04, 2014 / Am J Hum Genet Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N. Ehmke A. Caliebe R. Koenig S.G. Kant Z. Stark V. Cormier-Daire D. Wieczorek G. Gillessen-Kaesbach K. Hoff A. Kawalia H. Thiele J. Altmüller B. Fischer-Zirnsak A. Knaus N. Zhu V. Heinrich C. Huber I. Harabula M. Spielmann D. Horn U. Kornak J. Hecht P.M. Krawitz P. Nürnberg R. Siebert H. Manzke S. Mundlos December, 2014 / Nat Genet Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy C.A. Martin I. Ahmad A. Klingseisen M.S. Hussain L.S. Bicknell A. Leitch G. Nürnberg M.R. Toliat J.E. Murray D. Hunt F. Khan Z. Ali S. Tinschert J. Ding C. Keith M.E. Harley P. Heyn R. Müller I. Hoffmann V. Cormier-Daire H. Dollfus L. Dupuis A. Bashamboo K. McElreavey A. Kariminejad R. Mendoza-Londono A.T. Moore A. Saggar C. Schlechter R. Weleber H. Thiele J. Altmüller W. Höhne M.E. Hurles A.A. Noegel S.M. Baig P. Nürnberg A.P. Jackson 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
January, 2016 / PLoS ONE Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing D. Lal B.A. Neubauer M.R. Toliat J. Altmüller H. Thiele P. Nürnberg C. Kamrath A. Schänzer T. Sander A. Hahn M. Nothnagel
July 08, 2016 / PLoS ONE Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations A. Tiwari J. Lemke J. Altmüller H. Thiele E. Glaus J. Fleischhauer P. Nürnberg J. Neidhardt W. Berger
November 04, 2016 / Sci Rep The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family C. Reiff M. Owczarek-Lipska G. Spital C. Röger H. Hinz C. Jüschke H. Thiele J. Altmüller P. Nürnberg R. Da Costa J. Neidhardt
September, 2016 / Am J Med Genet A A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival S. Moosa V. Fano M.G. Obregon J. Altmüller H. Thiele P. Nürnberg G. Nishimura B. Wollnik
August, 2016 / Acta Neuropathol Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy E. Volmering P. Niehusmann V. Peeva A. Grote G. Zsurka J. Altmüller P. Nürnberg A.J. Becker S. Schoch C.E. Elger W.S. Kunz
June, 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
December 04, 2014 / Am J Hum Genet Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N. Ehmke A. Caliebe R. Koenig S.G. Kant Z. Stark V. Cormier-Daire D. Wieczorek G. Gillessen-Kaesbach K. Hoff A. Kawalia H. Thiele J. Altmüller B. Fischer-Zirnsak A. Knaus N. Zhu V. Heinrich C. Huber I. Harabula M. Spielmann D. Horn U. Kornak J. Hecht P.M. Krawitz P. Nürnberg R. Siebert H. Manzke S. Mundlos
December, 2014 / Nat Genet Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy C.A. Martin I. Ahmad A. Klingseisen M.S. Hussain L.S. Bicknell A. Leitch G. Nürnberg M.R. Toliat J.E. Murray D. Hunt F. Khan Z. Ali S. Tinschert J. Ding C. Keith M.E. Harley P. Heyn R. Müller I. Hoffmann V. Cormier-Daire H. Dollfus L. Dupuis A. Bashamboo K. McElreavey A. Kariminejad R. Mendoza-Londono A.T. Moore A. Saggar C. Schlechter R. Weleber H. Thiele J. Altmüller W. Höhne M.E. Hurles A.A. Noegel S.M. Baig P. Nürnberg A.P. Jackson
