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Georg F. Hoffmann

1986–2025 年に発表

別表記
Georg F Hoffmann
220
論文数
25,179
被引用数
98
h 指数
211
i10 指数

被引用数

Georg F. Hoffmann の年別被引用数1980 年: 被引用 1 件1990 年: 被引用 2 件1991 年: 被引用 1 件1992 年: 被引用 4 件1993 年: 被引用 6 件1994 年: 被引用 6 件1995 年: 被引用 5 件1996 年: 被引用 7 件1997 年: 被引用 14 件1998 年: 被引用 15 件1999 年: 被引用 23 件2000 年: 被引用 34 件2001 年: 被引用 24 件2002 年: 被引用 43 件2003 年: 被引用 73 件2004 年: 被引用 58 件2005 年: 被引用 73 件2006 年: 被引用 103 件2007 年: 被引用 87 件2008 年: 被引用 81 件2009 年: 被引用 131 件2010 年: 被引用 128 件2011 年: 被引用 135 件2012 年: 被引用 120 件2013 年: 被引用 114 件2014 年: 被引用 135 件2015 年: 被引用 133 件2016 年: 被引用 163 件2017 年: 被引用 139 件2018 年: 被引用 152 件2019 年: 被引用 498 件2020 年: 被引用 624 件2021 年: 被引用 620 件2022 年: 被引用 478 件2023 年: 被引用 322 件2024 年: 被引用 590 件2025 年: 被引用 228 件2026 年: 被引用 4 件1981〜1989 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 1,508 件、この内訳の 18.6%ドイツ: 引用元論文 781 件、この内訳の 9.6%イギリス: 引用元論文 637 件、この内訳の 7.9%中国: 引用元論文 474 件、この内訳の 5.8%イタリア: 引用元論文 429 件、この内訳の 5.3%オランダ: 引用元論文 392 件、この内訳の 4.8%フランス: 引用元論文 374 件、この内訳の 4.6%カナダ: 引用元論文 294 件、この内訳の 3.6%スイス: 引用元論文 281 件、この内訳の 3.5%スペイン: 引用元論文 231 件、この内訳の 2.9%オーストラリア: 引用元論文 206 件、この内訳の 2.5%オーストリア: 引用元論文 190 件、この内訳の 2.3%
0%18.6%その他 28.6%

機関

分野

  • Biochemistry, Genetics and Molecular Biology54.1%
  • Medicine28.4%
  • Earth and Planetary Sciences7.6%
  • Neuroscience3.3%
  • Environmental Science1.2%
  • Immunology and Microbiology1.2%
  • その他4.2%

トピック

  • Metabolism and Genetic Disorders9.8%
  • Mitochondrial Function and Pathology5.1%
  • Genomics and Rare Diseases3.1%
  • RNA modifications and cancer2.4%
  • Geology and Paleoclimatology Research2.3%
  • Folate and B Vitamins Research2.3%
  • その他75%

共著者

全論文

検索で開く
  1. The Genetic Landscape and Epidemiology of Phenylketonuria

    著者: Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A. F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, П. Гундорова, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter‐Konecki, Ania C. Muntau, Farès Namour, Mariusz Ołtarzewski, Andrea Paras, Belén Pérez, Emil Polák, A. V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl‐Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana‐da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau - The American Journal of Human Genetics 2020 被引用: 380

  2. Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

    著者: Lindsey Van Haute, Sabine Dietmann, Laura S. Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb‐Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk - Nature Communications 2016 被引用: 255

  3. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

    著者: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Sabine Stein, Sibylle Emilie Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara‐Schmidt, Inge Schwersenz, Maggie C. Walter, Matthias Baumann, Manuela Baumgärtner, Marcus Deschauer, Astrid Eisenkölbl, Marina Flotats‐Bastardas, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Eva Stögmann, Regina Trollmann, Katharina Vill, Claudia Weiß, Gert Wiegand, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, the SMArtCARE study group, Thea Beatrice Abele, Bárbara Andres, Daniela Angelova-Toshkina, Petra Baum, Tobias Baum, Ute Baur, Benedikt Becker, Bettina Behring, Theresa Birsak, Julia Bellut, Astrid Bertsche, Markus Blankenburg, Astrid Blaschek, Nathalie Braun, Sarah Braun, Nadine Burgenmeister, Nicole Claus, Isabell Cordts, Heike de Vries, Timo Deba, Adela Della Marina, Jonas Denecke, Joenna Driemeyer, Matthias Eckenweiler, Barbara Fiedler, Michal Fischer, Maren Freigang, Johannes Friese, Philippa Gaiser, Axel Gebert, Stephanie Geitmann, Klaus Goldhahn, Michael Grässl, Kristina Gröning, Julian Großkreutz, U Gruber‐Sedlmayr, Helene Guillemot, René Günther, Maja von der Hagen, H. Hartmann, Miriam Hiebeler, Elke Hobbiebrunken, Georg F. Hoffmann, Britta Holtkamp, Dorothea Holzwarth, Eva Jansen, Angela M. Kaindl, Nadja Kaiser, Jennifer Klamroth, Jan Christoph Koch, Stefan Koelker, Kirsten Kolzter, Brigitte Korschinsky, Hanna Küpper, Thorsten Langer, Ilka Lehnert, Paul Lingor, Wolfgang N. Löscher, Dana Loudovici-Krug, Κyriakos Martakis ほか 53 名 - Brain 2022 被引用: 70

  4. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

    著者: Theresa Brunet, Robert Jech, Melanie Brügger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matěj Škorvánek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, A. Sebastian Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner - Clinical Genetics 2021 被引用: 119

  5. Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

    著者: Ulrike Mütze, Sven F. Garbade, Gwendolyn Gramer, Martin Lindner, Peter Freisinger, Sarah C. Grünert, Julia B. Hennermann, Regina Ensenauer, Eva Thimm, Judith Zirnbauer, Michael Leichsenring, Florian Gleich, Friederike Hörster, Karina Grohmann‐Held, Nikolas Boy, Junmin Fang‐Hoffmann, Peter Burgard, Magdalena Walter, Georg F. Hoffmann, Stefan Kölker - PEDIATRICS 2020 被引用: 78

  6. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    著者: Tessa Wassenberg, Marta Molero-Luís, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Ángeles García‐Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang‐Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel M. Verbeek, Michèl A.A.P. Willemsen, Thomas Opladen - Orphanet Journal of Rare Diseases 2017 被引用: 232

  7. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    著者: on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD), Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann - Orphanet Journal of Rare Diseases 2020 被引用: 151

  8. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    著者: Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth - Nature Genetics 2012 被引用: 280

  9. Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

    著者: Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang‐Hoffmann, Karl Otfried Schwab, Uta Tacke, Friedrich K. Trefz, Eugen Mengel, U. Wendel, Michael Leichsenring, Peter Burgard, Georg F. Hoffmann - Orphanet Journal of Rare Diseases 2011 被引用: 181

  10. Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

    著者: Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H. Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, V. Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann‐Bartsch, Tobias Rothoeft, Alexandra Y. Kreins, E. Graham Davies, Dominik T. Schneider, Horst von Bernuth, Thomas Klingebiel, Georg F. Hoffmann, Ansgar Schulz, Fabian Hauck - Journal of Clinical Immunology 2023 被引用: 53

  11. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

    著者: Darius Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth, Mustafa Şahin - Brain 2015 被引用: 159

  12. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

    著者: Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Thomas Meißner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel, Aurora Martı́nez, Edward L. Huttlin, João A. Paulo, Riccardo Berutti, Jean‐François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval E. Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff - The American Journal of Human Genetics 2017 被引用: 155

  13. EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

    著者: Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth - Brain 2016 被引用: 141

  14. Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

    著者: Jessica J. Y. Lee, Wyeth W. Wasserman, Georg F. Hoffmann, Clara van Karnebeek, Nenad Blau - Genetics in Medicine 2017 被引用: 109

  15. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

    著者: Elena Schnabel‐Besson, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang‐Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze - Nutrients 2023 被引用: 22

  16. Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

    著者: Andreas Schulze, Martin Lindner, Dirk Kohlmüller, Katharina Olgemöller, Ertan Mayatepek, Georg F. Hoffmann - PEDIATRICS 2003 被引用: 515

  17. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

    著者: Darius Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L. Lewis, Christopher Conrad, Jonathan M. Rothberg, Jonathan O. Lipton, Stefan Kölker, Georg F. Hoffmann, Min‐Joon Han, Franck Polleux, Mustafa Şahin - Cell Reports 2016 被引用: 155

  18. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

    著者: Philippa B. Mills, Robert Surtees, M. P. Champion, Clare Beesley, Neil Dalton, Peter Scambler, Simon Heales, A. Briddon, Irene Scheimberg, Georg F. Hoffmann, Johannes Zschocke, Peter T. Clayton - Human Molecular Genetics 2005 被引用: 307

  19. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

    著者: Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch - Journal of Medical Genetics 2012 被引用: 185

  20. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

    著者: Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vũ Chí Dũng, Nguyễn Ngọc Khánh, Ishwar C. Verma, Sunita Bijarnia‐Mahay, Dong Hwan Lee, Dau‐Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi - Molecular Genetics and Metabolism Reports 2018 被引用: 129

  21. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result

    著者: J.G. Loeber, Peter Burgard, Martina C. Cornel, Tessel Rigter, Stephanie S. Weinreich, Kathrin Rupp, Georg F. Hoffmann, Luciano Vittozzi - Journal of Inherited Metabolic Disease 2012 被引用: 200

  22. Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection: A prospective observational cohort study

    著者: Anneke Haddad, Aleš Janda, Hanna Renk, Maximilian Stich, Pauline Frieh, Klaus Kaier, Florens Lohrmann, Alexandra Nieters, Anna Willems, Daniela Huzly, Alex Dulovic, Nicole Schneiderhan‐Marra, Eva‐Maria Jacobsen, Dorit Fabricius, Maria Zernickel, Thomas Stamminger, Sebastian Bode, Theda Himpel, Jonathan Remppis, Corinna Engel, Andreas Peter, Tina Ganzenmueller, Georg F. Hoffmann, Bettina Haase, Hans‐Georg Kräusslich, Bárbara Müller, Axel R. Franz, Klaus‐Michael Debatin, Burkhard Tönshoff, Philipp Henneke, Roland Elling - EBioMedicine 2022 被引用: 46

  23. A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

    著者: Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin V. Schwarz, Joachim B. Kunz, Georg F. Hoffmann, Jürgen G. Okun - PLoS ONE 2023 被引用: 21

  24. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

    著者: Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng, G.S. Ch'ng, Youyin Choy, Wuh‐Liang Hwu, Wang‐Tso Lee, Michèl A.A.P. Willemsen, Marcel M. Verbeek, Tessa Wassenberg, Luc Régal, Simona Orcesi, Davide Tonduti, Patrizia Accorsi, Hervé Testard, José E. Abdenur, S K Tay, G Allen, Simon Heales, Izabela Kern-Zdanowicz, Mitsuhiro Kato, Alberto Burlina, C. Manegold, Georg F. Hoffmann, Nenad Blau - Neurology 2010 被引用: 225