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) Harabula, Izabela-Cezara (1) Lupianez Garcia, Dario Jesus Dr. (1) (-) Altmueller, Janine Dr.med. (27) 2002 (1) 2005 (2) 2015 (15) (-) 2016 (27) 2017 (31) 2018 (39) 2019 (30) 2020 (24) 2021 (46) 2022 (36) 2023 (18) 2024 (1) Cellular Neurosciences (2) Computational Regulatory Genomics (2) Experimental Ultrahigh-Field MR (5) Genetics of Metabolic and Reproductive Disorders (1) Genome Engineering & Disease Models (2) (-) Genomics (27) Immune Regulation and Cancer (3) Magnetic Resonance (5) Proteome Dynamics (1) RNA Biology and Posttranscriptional Regulation (1) Transgenics (2) 27 Results: Active Filter: Altmueller, Janine Dr.med.Genomics2016 Sort: Result score Newest to oldest Oldest to newest January 01, 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 September 01, 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 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 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 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 February 01, 2016 / Genome Res Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice M. Spielmann N. Kakar N. Tayebi C. Leettola G. Nürnberg N. Sowada D.G. Lupiáñez I. Harabula R. Flöttmann D. Horn W.L. Chan L. Wittler R. Yilmaz J. Altmüller H. Thiele H. van Bokhoven C.E. Schwartz P. Nürnberg J.U. Bowie J. Ahmad C. Kubisch S. Mundlos G. Borck May 12, 2016 / N Engl J Med Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations K. Laghmani B.B. Beck S.S. Yang E. Seaayfan A. Wenzel B. Reusch H. Vitzthum D. Priem S. Demaretz K. Bergmann L.K. Duin H. Göbel C. Mache H. Thiele M.P. Bartram C. Dombret J. Altmüller P. Nürnberg T. Benzing E. Levtchenko H.W. Seyberth G. Klaus G. Yigit S.H. Lin A. Timmer T.J. de Koning S.A. Scherjon K.P. Schlingmann M.J.M. Bertrand M.M. Rinschen O. de Backer M. Konrad M. Kömhoff 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 July 15, 2016 / eLife Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit J. Hatzold F. Beleggia H. Herzig J. Altmüller P. Nürnberg W. Bloch B. Wollnik M. Hammerschmidt June 01, 2016 / PLoS Pathog The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis M. Tollot D. Assmann C. Becker J. Altmüller J.Y. Dutheil C.E. Wegner R. Kahmann Pagination Current page 1 Page 2 Page 3 Next page Next › Last page Last »
January 01, 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
September 01, 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
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
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
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
February 01, 2016 / Genome Res Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice M. Spielmann N. Kakar N. Tayebi C. Leettola G. Nürnberg N. Sowada D.G. Lupiáñez I. Harabula R. Flöttmann D. Horn W.L. Chan L. Wittler R. Yilmaz J. Altmüller H. Thiele H. van Bokhoven C.E. Schwartz P. Nürnberg J.U. Bowie J. Ahmad C. Kubisch S. Mundlos G. Borck
May 12, 2016 / N Engl J Med Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations K. Laghmani B.B. Beck S.S. Yang E. Seaayfan A. Wenzel B. Reusch H. Vitzthum D. Priem S. Demaretz K. Bergmann L.K. Duin H. Göbel C. Mache H. Thiele M.P. Bartram C. Dombret J. Altmüller P. Nürnberg T. Benzing E. Levtchenko H.W. Seyberth G. Klaus G. Yigit S.H. Lin A. Timmer T.J. de Koning S.A. Scherjon K.P. Schlingmann M.J.M. Bertrand M.M. Rinschen O. de Backer M. Konrad M. Kömhoff
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
July 15, 2016 / eLife Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit J. Hatzold F. Beleggia H. Herzig J. Altmüller P. Nürnberg W. Bloch B. Wollnik M. Hammerschmidt
June 01, 2016 / PLoS Pathog The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis M. Tollot D. Assmann C. Becker J. Altmüller J.Y. Dutheil C.E. Wegner R. Kahmann