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. (1) Akalin, Altuna Dr. (5) Beule, Dieter Dr. (4) Birchmeier-Kohler, Carmen Prof. Dr. (1) Blüthgen, Nils (3) Borodina, Tatiana Dr. (1) Braeuning, Caroline (1) Chen, Chia-Yu (1) Chen, Wei Prof. Dr. (1) Dechend, Ralf Priv. Doz. (1) Del Giudice, Simone (1) Franke, Vedran Dr. (3) Fritsche, Raphaela Dr. (1) Geisberger, Sabrina Yasmin Dr. (1) Harabula, Izabela-Cezara (1) Herse, Florian PD Dr. (1) Hinze, Christian Dr. med. Dipl.-Math. (1) Hirsekorn, Antje (5) Hübner, Norbert Prof. Dr. (2) Kastelic, Nicolai (1) Kocks, Christine Dr. (2) Kühn, Ralf Dr. (1) Kunz, Severine Dr. (1) Lacadie, Scott Allen Dr. (1) Landthaler, Markus Prof. Dr. (25) Lupianez Garcia, Dario Jesus Dr. (1) Maatz, Henrike Dr. (1) Mintcheva, Janita (1) Müller, Thomas Dr. (1) Neuschulz, Anika (1) Obermayer-Wasserscheid, Benedikt Dr. (4) Ohler, Uwe Prof. Dr. (26) Quedenau, Claudia (2) Rajewsky, Nikolaus Prof. Dr. (8) Sai, Somesh (1) Sander, Maike Prof. Dr. (1) Schmitt, Clemens Prof. Dr. (2) Schwarz, Roland Dr. (1) Selbach, Matthias Prof. Dr. (7) Spanjaard, Bastiaan Dr. (1) Sprink, Thiemo Dr. (1) Sunaga-Franze, Daniele Yumi Dr. (1) Uyar, Bora Dr. (1) Vucicevic, Dubravka (1) Wei, Tzu Ting (1) Woehler, Andrew Dr. (1) Wurmus, Ricardo (1) Zauber, Henrik Dr. (2) Zinzen, Robert Patrick Dr. (1) (-) Altmueller, Janine Dr.med. (106) (-) Chekulaeva, Marina Dr. (3) (-) Fischer, Cornelius Dr. (3) (-) Junker, Jan Philipp Prof. Dr. (1) (-) Wyler, Emanuel Dr. (17) 2002 (1) 2005 (2) 2012 (2) 2013 (10) 2014 (16) 2015 (27) (-) 2016 (34) (-) 2017 (39) 2018 (44) 2019 (36) 2020 (33) (-) 2021 (61) 2022 (56) 2023 (36) 2024 (7) Advanced Light Microscopy (1) AG Müller/Dechend (ECRC) (1) Animal Phenotyping (1) Bioinformatics and Omics Data Science (3) Cancer Genetics and Cellular Stress Responses (2) Cardiac MRI (1) Cellular Neurosciences (6) (-) Computational Regulatory Genomics (9) Developmental Biology / Signal Transduction (1) Epigenetic Regulation and Chromatin Architecture (1) Experimental Ultrahigh-Field MR (7) Genetics and Genomics of Cardiovascular Diseases (4) Genetics of Metabolic and Reproductive Disorders (2) Genome Engineering & Disease Models (3) (-) Genomics (109) Hypertension-caused End-Organ Damage (1) Hypertension-Mediated End-Organ Damage (1) Immune Regulation and Cancer (4) Magnetic Resonance (7) Mobile DNA (1) Myology (1) Non-coding RNAs and Mechanisms of Cytoplasmic Gene Regulation (6) Proteome Dynamics (5) Proteomics and Metabolomics (1) Proteomics and Molecular Mechanisms of Neurodegenerative Diseases (1) Quantitative Developmental Biology (11) (-) RNA Biology and Posttranscriptional Regulation (20) Systems Biology Imaging (1) Systems Biology of Gene Regulatory Elements (5) Transgenics (3) Translational Bioinformatics (3) 134 Results: Active Filter: Altmueller, Janine Dr.med.Chekulaeva, Marina Dr.Fischer, Cornelius Dr.Junker, Jan Philipp Prof. Dr.Wyler, Emanuel Dr.Computational Regulatory GenomicsGenomicsRNA Biology and Posttranscriptional Regulation201620172021 Sort: Result score Newest to oldest Oldest to newest 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 March 11, 2021 / Brain Commun A novel remitting leukodystrophy associated with a variant in FBP2 A. Gizak S. Diegmann S. Dreha-Kulaczewski J. Wiśniewski P. Duda A. Ohlenbusch B. Huppke M. Henneke W. Höhne J. Altmüller H. Thiele P. Nürnberg D. Rakus J. Gärtner P. Huppke Pagination Current page 1 Page 2 Page 3 Page 4 … Next page Next › Last page Last »
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
March 11, 2021 / Brain Commun A novel remitting leukodystrophy associated with a variant in FBP2 A. Gizak S. Diegmann S. Dreha-Kulaczewski J. Wiśniewski P. Duda A. Ohlenbusch B. Huppke M. Henneke W. Höhne J. Altmüller H. Thiele P. Nürnberg D. Rakus J. Gärtner P. Huppke