Scientific Publications Search Search Author Impact Factor Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Beule, Dieter Dr. (2) Blüthgen, Nils (1) Borodina, Tatiana Dr. (1) Braeuning, Caroline (1) Chen, Chia-Yu (1) Dechend, Ralf Priv. Doz. (1) Edes, Inan Dr. (1) Fischer, Cornelius Dr. (2) Geisberger, Sabrina Yasmin Dr. (1) Harabula, Izabela-Cezara (1) Herse, Florian PD Dr. (1) Hinze, Christian Dr. med. Dipl.-Math. (1) Hirsekorn, Antje (3) Junker, Jan Philipp Prof. Dr. (1) Kettenmann, Helmut Prof. Dr. (22) Kocks, Christine Dr. (1) Ku, Min-Chi Dr. (1) Kühn, Ralf Dr. (1) Lacadie, Scott Allen Dr. (1) Landthaler, Markus Prof. Dr. (4) Lupianez Garcia, Dario Jesus Dr. (1) Mintcheva, Janita (1) Motta, Edyta (1) Neuschulz, Anika (1) Niendorf, Thoralf Prof. Dr. (1) Nolte, Christiane Dr. (1) Obermayer-Wasserscheid, Benedikt Dr. (1) Ohler, Uwe Prof. Dr. (13) Quedenau, Claudia (1) Rajewsky, Nikolaus Prof. Dr. (1) Sai, Somesh (1) Sander, Maike Prof. Dr. (1) Schmitt, Clemens Prof. Dr. (1) Selbach, Matthias Prof. Dr. (3) Semtner, Marcus Dr. (4) Spanjaard, Bastiaan Dr. (1) Sporbert, Anje Dr. (1) Sprink, Thiemo Dr. (1) Sunaga-Franze, Daniele Yumi Dr. (1) Uckert, Wolfgang Prof. Dr. (1) Ugursu Isyar, Bilge (2) Vucicevic, Dubravka (1) Waiczies, Sonia PD Dr. (2) Wolf, Susanne Dr. (8) (-) Altmueller, Janine Dr.med. (75) (-) Waiczies, Helmar Dr. (1) (-) Wyler, Emanuel Dr. (1) (-) Zauber, Henrik Dr. (1) 2002 (1) 2005 (2) 2013 (2) 2014 (7) 2015 (25) (-) 2016 (31) 2017 (32) 2018 (39) 2019 (31) 2020 (24) (-) 2021 (46) 2022 (36) 2023 (18) 2024 (2) Animal Phenotyping (1) Bioinformatics and Omics Data Science (1) Cancer Genetics and Cellular Stress Responses (2) (-) Cellular Neurosciences (1) (-) Computational Regulatory Genomics (1) Experimental Ultrahigh-Field MR (9) Genetics of Metabolic and Reproductive Disorders (2) Genome Engineering & Disease Models (2) (-) Genomics (75) Immune Regulation and Cancer (3) Intracellular Proteolysis (1) Magnetic Resonance (9) Myology (1) Out-patient Clinic for Neuroimmunology (2) Proteome Dynamics (7) RNA Biology and Posttranscriptional Regulation (13) Systems Biology of Gene Regulatory Elements (2) Transgenics (2) Translational Bioinformatics (3) 77 Results: Active Filter: Altmueller, Janine Dr.med.Waiczies, Helmar Dr.Wyler, Emanuel Dr.Zauber, Henrik Dr.Cellular NeurosciencesComputational Regulatory GenomicsGenomics20162021 Sort: Result score Newest to oldest Oldest to newest 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 August 01, 2021 / Hum Genet Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism A.E. Volk A. Hedergott M. Preising S. Rading J. Fricke P. Herkenrath P. Nürnberg J. Altmüller S. von Ameln B. Lorenz A. Neugebauer M. Karsak C. Kubisch December 01, 2021 / Nat Genet Chromothripsis followed by circular recombination drives oncogene amplification in human cancer C. Rosswog C. Bartenhagen A. Welte Y. Kahlert N. Hemstedt W. Lorenz M. Cartolano S. Ackermann S. Perner W. Vogel J. Altmüller P. Nürnberg F. Hertwig G. Göhring E. Lilienweiss A.M. Stütz J.O. Korbel R.K. Thomas M. Peifer M. Fischer October 01, 2021 / Neurogenetics ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants K. Kloth B. Lozic J. Tagoe M.J.V. Hoffer A. Van der Ven H. Thiele J. Altmüller C. Kubisch P.Y.B. Au J. Denecke E.K. Bijlsma D. Lessel November 01, 2021 / Genet Med Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M. Iqbal R. Maroofian B. Çavdarlı F. Riccardi M. Field S. Banka D.K. Bubshait Y. Li J. Hertecant S.M. Baig D. Dyment S. Efthymiou U. Abdullah E.U.H. Makhdoom Z. Ali T Scherf de Almeida F. Molinari C. Mignon-Ravix B. Chabrol J. Antony L. Ades A.T. Pagnamenta A. Jackson S. Douzgou C. Beetz V. Karageorgou B. Vona A. Rad J.M. Baig T. Sultan J.R. Alvi S. Maqbool F. Rahman M.B. Toosi F. Ashrafzadeh S. Imannezhad E.G. Karimiani Y. Sarwar S. Khan M. Jameel A.A. Noegel B. Budde J. Altmüller S. Motameny W. Höhne H. Houlden P. Nürnberg B. Wollnik L. Villard F.S. Alkuraya M. Osmond M.S. Hussain G. Yigit July 01, 2021 / Nat Cell Biol Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility J. Koester Y.A. Miroshnikova S. Ghatak C.A. Chacón-Martínez J. Morgner X. Li I. Atanassov J. Altmüller D.E. Birk M. Koch W. Bloch M. Bartusel C.M. Niessen A. Rada-Iglesias S.A. Wickström February 01, 2021 / Genet Med Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia S. Schröder Y. Li G. Yigit J. Altmüller I. Bader A. Bevot S. Biskup S. Dreha-Kulaczewski C.G. Korenke R. Kottke J.A. Mayr M. Preisel S.P. Toelle S. Wente-Schulz S.B. Wortmann H. Hahn E. Boltshauser A. Uhmann B. Wollnik K. Brockmann January 01, 2021 / Am J Med Genet A Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours D. Bamborschke Ö. Özdemir M. Kreutzer S. Motameny H. Thiele A. Kribs J. Dötsch J. Altmüller P. Nürnberg S. Cirak April 01, 2021 / Am J Med Genet A Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study A. Gangfuß G. Yigit J. Altmüller P. Nürnberg J.C. Czeschik B. Wollnik N. Bögershausen P. Burfeind D. Wieczorek F. Kaiser A. Roos H. Kölbel U. Schara-Schmidt A. Kuechler May 14, 2021 / Am J Med Genet A Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey H.S. Daimagüler U. Akpulat Ö. Özdemir U. Yis S. Güngör B. Talim G. Diniz F. Baydan H. Thiele J. Altmüller P. Nürnberg S. Cirak Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
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
August 01, 2021 / Hum Genet Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism A.E. Volk A. Hedergott M. Preising S. Rading J. Fricke P. Herkenrath P. Nürnberg J. Altmüller S. von Ameln B. Lorenz A. Neugebauer M. Karsak C. Kubisch
December 01, 2021 / Nat Genet Chromothripsis followed by circular recombination drives oncogene amplification in human cancer C. Rosswog C. Bartenhagen A. Welte Y. Kahlert N. Hemstedt W. Lorenz M. Cartolano S. Ackermann S. Perner W. Vogel J. Altmüller P. Nürnberg F. Hertwig G. Göhring E. Lilienweiss A.M. Stütz J.O. Korbel R.K. Thomas M. Peifer M. Fischer
October 01, 2021 / Neurogenetics ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants K. Kloth B. Lozic J. Tagoe M.J.V. Hoffer A. Van der Ven H. Thiele J. Altmüller C. Kubisch P.Y.B. Au J. Denecke E.K. Bijlsma D. Lessel
November 01, 2021 / Genet Med Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M. Iqbal R. Maroofian B. Çavdarlı F. Riccardi M. Field S. Banka D.K. Bubshait Y. Li J. Hertecant S.M. Baig D. Dyment S. Efthymiou U. Abdullah E.U.H. Makhdoom Z. Ali T Scherf de Almeida F. Molinari C. Mignon-Ravix B. Chabrol J. Antony L. Ades A.T. Pagnamenta A. Jackson S. Douzgou C. Beetz V. Karageorgou B. Vona A. Rad J.M. Baig T. Sultan J.R. Alvi S. Maqbool F. Rahman M.B. Toosi F. Ashrafzadeh S. Imannezhad E.G. Karimiani Y. Sarwar S. Khan M. Jameel A.A. Noegel B. Budde J. Altmüller S. Motameny W. Höhne H. Houlden P. Nürnberg B. Wollnik L. Villard F.S. Alkuraya M. Osmond M.S. Hussain G. Yigit
July 01, 2021 / Nat Cell Biol Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility J. Koester Y.A. Miroshnikova S. Ghatak C.A. Chacón-Martínez J. Morgner X. Li I. Atanassov J. Altmüller D.E. Birk M. Koch W. Bloch M. Bartusel C.M. Niessen A. Rada-Iglesias S.A. Wickström
February 01, 2021 / Genet Med Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia S. Schröder Y. Li G. Yigit J. Altmüller I. Bader A. Bevot S. Biskup S. Dreha-Kulaczewski C.G. Korenke R. Kottke J.A. Mayr M. Preisel S.P. Toelle S. Wente-Schulz S.B. Wortmann H. Hahn E. Boltshauser A. Uhmann B. Wollnik K. Brockmann
January 01, 2021 / Am J Med Genet A Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours D. Bamborschke Ö. Özdemir M. Kreutzer S. Motameny H. Thiele A. Kribs J. Dötsch J. Altmüller P. Nürnberg S. Cirak
April 01, 2021 / Am J Med Genet A Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: a clinical longitudinal study A. Gangfuß G. Yigit J. Altmüller P. Nürnberg J.C. Czeschik B. Wollnik N. Bögershausen P. Burfeind D. Wieczorek F. Kaiser A. Roos H. Kölbel U. Schara-Schmidt A. Kuechler
May 14, 2021 / Am J Med Genet A Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey H.S. Daimagüler U. Akpulat Ö. Özdemir U. Yis S. Güngör B. Talim G. Diniz F. Baydan H. Thiele J. Altmüller P. Nürnberg S. Cirak