Giorgio Casari

1987–2024 年に発表

96
論文数
18,630
被引用数
71
h 指数
92
i10 指数

被引用数

Giorgio Casari の年別被引用数1988 年: 被引用 7 件1989 年: 被引用 2 件1990 年: 被引用 2 件1991 年: 被引用 5 件1992 年: 被引用 14 件1993 年: 被引用 16 件1994 年: 被引用 7 件1995 年: 被引用 20 件1996 年: 被引用 23 件1997 年: 被引用 32 件1998 年: 被引用 33 件1999 年: 被引用 76 件2000 年: 被引用 95 件2001 年: 被引用 82 件2002 年: 被引用 88 件2003 年: 被引用 134 件2004 年: 被引用 137 件2005 年: 被引用 152 件2006 年: 被引用 195 件2007 年: 被引用 176 件2008 年: 被引用 160 件2009 年: 被引用 131 件2010 年: 被引用 148 件2011 年: 被引用 143 件2012 年: 被引用 152 件2013 年: 被引用 116 件2014 年: 被引用 106 件2015 年: 被引用 116 件2016 年: 被引用 103 件2017 年: 被引用 90 件2018 年: 被引用 80 件2019 年: 被引用 256 件2020 年: 被引用 405 件2021 年: 被引用 958 件2022 年: 被引用 836 件2023 年: 被引用 628 件2024 年: 被引用 729 件2025 年: 被引用 218 件2026 年: 被引用 8 件

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 2,252 件、この内訳の 22.3%イギリス: 引用元論文 749 件、この内訳の 7.4%イタリア: 引用元論文 739 件、この内訳の 7.3%ドイツ: 引用元論文 664 件、この内訳の 6.6%フランス: 引用元論文 626 件、この内訳の 6.2%カナダ: 引用元論文 398 件、この内訳の 3.9%中国: 引用元論文 385 件、この内訳の 3.8%オランダ: 引用元論文 297 件、この内訳の 2.9%オーストラリア: 引用元論文 289 件、この内訳の 2.9%日本: 引用元論文 271 件、この内訳の 2.7%スペイン: 引用元論文 265 件、この内訳の 2.6%スイス: 引用元論文 221 件、この内訳の 2.2%
0%22.3%その他 29.2%

分野

  • Medicine49.6%
  • Biochemistry, Genetics and Molecular Biology28.1%
  • Neuroscience12.7%
  • Immunology and Microbiology6.1%
  • Nursing1.5%
  • Agricultural and Biological Sciences0.7%
  • その他1.3%

トピック

  • COVID-19 Clinical Research Studies6.5%
  • SARS-CoV-2 and COVID-19 Research5.3%
  • Mitochondrial Function and Pathology4.2%
  • Long-Term Effects of COVID-193.5%
  • Genetic Neurodegenerative Diseases1.9%
  • Parkinson's Disease Mechanisms and Treatments1.8%
  • その他76.8%

共著者

全論文

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  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ottavia M. Delmonte, Michael S. Abers, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Lorenzo Piemonti, Fabio Ciceri, Kaya Bilgüvar, Richard P. Lifton, Marc Vasse, David M. Smadja, Mélanie Migaud, Jérôme Hadjadj, Benjamin Terrier, Darragh Duffy, Lluís Quintana‐Murci, Diederik van de Beek, Lucie Roussel, Donald C. Vinh, Stuart G. Tangye, Filomeen Haerynck, David Dalmau, Javier Martínez‐Picado, Petter Brodin, Michel C. Nussenzweig, Stéphanie Boisson‐Dupuis, Carlos Rodríguez-Gallego, Guillaume Vogt, Trine H. Mogensen, Andrew J. Oler, Jingwen Gu, Peter D. Burbelo, Jeffrey I. Cohen, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Paolo Bonfanti, Patrick Rossignol, Julien Mayaux, Frédéric Rieux‐Laucat, Eystein S. Husebye, Francesca Fusco, Matilde Valeria Ursini, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quirós-Roldán, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Xavier Duval, Jade Ghosn, HGID Lab, NIAID-USUHS Immune Response to COVID Group, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, John S. Tsang, Raphaela Goldbach‐Mansky, Kai Kisand, Michail S. Lionakis, Anne Puel, Shen‐Ying Zhang, Steven M. Holland, Guy Gorochov, Emmanuelle Jouanguy ほか 652 名 - Science 2020 被引用: 2,872

  2. Autoantibodies neutralizing type I IFNs are present in 4% of uninfected individuals over 70 years old and account for 20% of COVID-19 deaths

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Pierre Garçon, Jacques G. Rivière, Jean‐Christophe Lagier, Stéphanie Gentile, Lindsey B. Rosen, Elana Shaw, Tomohiro Morio, Junko Tanaka, David Dalmau, Pierre‐Louis Tharaux, D. Sène, Alain Stépanian, Bruno Mégarbane, Vasiliki Triantafyllia, Arnaud Fekkar, James R. Heath, José Luis Franco, Juan‐Manuel Anaya, Jordi Solé‐Violán, Luisa Imberti, Andrea Biondi, Paolo Bonfanti, Riccardo Castagnoli, Ottavia M. Delmonte, Yu Zhang, Andrew L. Snow, Steven M. Holland, Catherine M. Biggs, Marcela Moncada‐Vélez, Andrés A. Arias, Lazaro Lorenzo, Soraya Boucherit, Boubacar Coulibaly, Dany Anglicheau, Anna M. Planas, Filomeen Haerynck, Sotiriјa Duvlis, Robert L. Nussbaum, Tayfun Özçelık, Sevgi Keleş, Ahmed Aziz Bousfiha, Jalila El Bakkouri, Carolina Ramı́rez-Santana, Stéphane Paul, Qiang Pan‐Hammarström, Lennart Hammarström, Annabelle Dupont, Alina Kurolap, Christine N. Metz, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Fabio Ciceri, Lucila Akune Barreiros, Elena Domínguez‐Garrido, Mateus Vidigal, Mayana Zatz, Diederik van de Beek, Sabina Sahanic, Ivan Tancevski, Yuriy Stepanovskyy, Oksana Boyarchuk, Yoko Nukui, Miyuki Tsumura, Loreto Vidaur, Stuart G. Tangye, Sonia Burrel, Darragh Duffy, Lluís Quintana‐Murci, Adam Klocperk ほか 95 名 - Science Immunology 2021 被引用: 631

  3. X-linked recessive TLR7 deficiency in 1% of men under 60 years old with life-threatening COVID-19

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, COVID Human Genetic Effort, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis ほか 13 名 - Science Immunology 2021 被引用: 420

  4. Human genetic and immunological determinants of critical COVID-19 pneumonia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Carlos Flores, Carlos Rodríguez‐Gallego, Carolina Prando, Catherine M. Biggs, Charles‐Édouard Luyt, Clifton L. Dalgard, Cliona O’Farrelly, Daniela Matuozzo, David Dalmau, David S. Perlin, Davood Mansouri, Diederik van de Beek, Donald C. Vinh, Elena Domínguez‐Garrido, Elena W.Y. Hsieh, Emine Hafize Erdeniz, Emmanuelle Jouanguy, Esra Şevketoğlu, Estelle Talouarn, Eugenia Quirós-Roldán, Evangelos Andreakos, Eystein S. Husebye, Fahad Alsohime, Filomeen Haerynck, Giorgio Casari, Giuseppe Novelli, Gökhan Aytekіn, Guillaume Morelle, Gülsüm Alkan, Gülsüm İclal Bayhan, Hagit Baris Feldman, Helen C. Su, Horst von Bernuth, Igor Resnick, Ingrid G. Bustos, Isabelle Meyts, Isabelle Migeotte, Ivan Tancevski, Jacinta Bustamante, Jacques Fellay, Jamila El Baghdadi, Javier Martínez‐Picado, Jean‐Laurent Casanova, Jérémie Rosain, Jérémy Manry, Jie Chen, John Christodoulou, Jonathan Bohlen, José Luis Franco, Juan Li, Juan‐Manuel Anaya, Julián Rojas, YE Junqiang, K. M. Furkan Uddin, Kadriye Kart Yaşar, Kai Kisand, Keisuke Okamoto, Khalil Chaïbi, Kristina Mironska, László Maródi, Laurent Abel, Laurent Rénia, Lazaro Lorenzo, Lennart Hammarström, Lisa F. P. Ng, Lluís Quintana‐Murci, Lucía Victoria Erazo-Borrás, Luigi D. Notarangelo, Luis Felipe Reyes, Luís M. Allende ほか 63 名 - Nature 2022 被引用: 391

  5. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Tamar Rubin, Melike Emiroğlu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda‐Guillén, David I. Berrios, Linda Vong, Constance H. Katelaris, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Jale Bengi Çelik, Camila Astudillo, Sarah Winter, Stéphanie Boisson‐Dupuis, Éric Oksenhendler, Satoshi Okada, Oana Caluseriu, Mathilde Valeria Ursini, Éric Ballot, Geoffroy Lafarge, Tomáš Freiberger, Carlos A. Arango-Franco, Romain Lévy, COVID Human Genetic Effort, Alessandro Aiuti, Saleh Al‐Muhsen, Fahd Al‐Mulla, Evangelos Andreakos, Andrés A. Arias, Hagit Baris Feldman, Paul Bastard, Анастасія Бондаренко, A. Borghesi, Ahmed Aziz Bousfiha, Petter Brodin, Yenan T. Bryceson, Giorgio Casari, John Christodoulou, Roger Colobrán, Antonio Condino-Neto, Jacques Fellay, Carlos Flores, José Luis Franco, Filomeen Haerynck, Rabih Halwani, Lennart Hammarström, James R. Heath, Elena W.Y. Hsieh, Yuval Itan, Elżbieta Kaja, Kai Kisand, Cheng‐Lung Ku, Yun Ling, YL Lau, Davood Mansouri, Isabelle Meyts, Joshua D. Milner, Trine H. Mogensen, Antonio Novelli, Giuseppe Novelli, Keisuke Okamoto, Tayfun Özçelık, Rebeca Pérez de Diego, Jordi Pérez‐Tur, David S. Perlin, Carolina Prando, Aurora Pujol, Lluís Quintana‐Murci, Laurent Rénia ほか 126 名 - Nature 2023 被引用: 105

  6. Autoantibodies against type I IFNs in patients with critical influenza pneumonia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Anastasiia Bondarenko, Ahmed Aziz Bousfiha, Petter Brodin, Yenan T. Bryceson, Carlos D. Bustamante, Manish J. Butte, Giorgio Casari, John Christodoulou, Antonio Condino-Neto, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Murkesh Desai, Beth A. Drolet, Jamila El Baghdadi, Sara Elva Espinosa‐Padilla, Jacques Fellay, Carlos Flores, Paraskevi C. Fragkou, José Luis Barrera Franco, Antoine Froidure, Ioanna E. Galani, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Sarah E. Henrickson, Elena W.Y. Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Erich D. Jarvis, Timokratis Karamitros, Kai Kisand, Ourania Koltsida, Cheng‐Lung Ku, Yu-Lung Lau, Yun Ling, C. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F. P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O’Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Özçelık, Qiang Pan‐Hammarström, Jean W. Pape, Rebeca Pérez de Diego, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Vasiliki Rapti, Laurent Rénia ほか 144 名 - The Journal of Experimental Medicine 2022 被引用: 128

  7. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Pierre Garçon, Jacques G. Rivière, Jean‐Christophe Lagier, Stéphanie Gentile, Lindsey B. Rosen, Elana Shaw, Tomohiro Morio, Junko Tanaka, David Dalmau, Pierre‐Louis Tharaux, D. Sène, Alain Stépanian, Bruno Mégarbane, Vasiliki Triantafyllia, Arnaud Fekkar, James R. Heath, José Luis Franco, Juan‐Manuel Anaya, Jordi Solé‐Violán, Luisa Imberti, Andrea Biondi, Paolo Bonfanti, Riccardo Castagnoli, Ottavia M. Delmonte, Yu Zhang, Andrew L. Snow, Steven M. Holland, Catherine M. Biggs, Marcela Moncada‐Vélez, Andrés A. Arias, Lazaro Lorenzo, Soraya Boucherit, Dany Anglicheau, Anna M. Planas, Filomeen Haerynck, Sotiriјa Duvlis, Tayfun Özçelık, Sevgi Keleş, Ahmed Aziz Bousfiha, Jalila El Bakkouri, Carolina Ramı́rez-Santana, Stéphane Paul, Qiang Pan‐Hammarström, Lennart Hammarström, Annabelle Dupont, Alina Kurolap, Christine N. Metz, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Fabio Ciceri, Lucila Akune Barreiros, Elena Domínguez‐Garrido, Mateus Vidigal, Mayana Zatz, Diederik van de Beek, Sabina Sahanic, Ivan Tancevski, Yuriy Stepanovskyy, Oksana Boyarchuk, Yoko Nukui, Miyuki Tsumura, Loreto Vidaur, Stuart G. Tangye, Sonia Burrel, Darragh Duffy, Lluis Quintana-Murci, Adam Klocperk, Nelli Y. Kann, Anna Shcherbina ほか 1,082 名 - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 被引用: 193

  8. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Catherine M. Biggs, Dusan Bogunovic, Alexandre Bolze, Анастасія Бондаренко, Ahmed Aziz Bousfiha, Şefika Elmas Bozdemir, Petter Brodin, Yenan T. Bryceson, Carlos D. Bustamante, Manish J. Butte, Giorgio Casari, John Christodoulou, Roger Colobrán, Antônio Condino‐Neto, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Murkesh Desai, Beth A. Drolet, Jamila El Baghdadi, Melike Emiroğlu, Emine Hafize Erdeniz, Sara Elva Espinosa‐Padilla, Jacques Fellay, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Belgi̇n Gülhan, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Sarah E. Henrickson, Elena W.Y. Hsieh, Eystein S. Husebye, Kohsuke Imai, Yuval Itan, Petr Jabandžiev, Erich D. Jarvis, Timokratis Karamitros, Adem Karbuz, Kai Kisand, Cheng‐Lung Ku, YL Lau, Yun Ling, C. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Ayşe Metìn, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F. P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O’Farrelly, Satoshi Okada, Keisuke Okamoto, Şadiye Kübra Tüter Öz, Tayfun Özçelık, Qiang Pan‐Hammarström, Maria Papadaki, Jean W. Pape ほか 74 名 - The Journal of Experimental Medicine 2022 被引用: 115

  9. Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2

    著者: , , , , , , , , - EMBO Molecular Medicine 2016 被引用: 145

  10. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere–Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud ほか 1,410 名 - Genome Medicine 2023 被引用: 77

  11. Studying severe long COVID to understand post-infectious disorders beyond COVID-19

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Murkesh Desai, Beth A. Drolet, Jamila El Baghdadi, Sara Elva Espinosa‐Padilla, Jacques Fellay, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Sarah E. Henrickson, Elena W.Y. Hsieh, Eystein S. Husebye, Kohsuke Imai, Yuval Itan, Erich D. Jarvis, Timokratis Karamitros, Kai Kisand, Cheng‐Lung Ku, YL Lau, Yun Ling, C. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Tomohiro Morio, Lisa F. P. Ng, Antonio Novelli, Giuseppe Novelli, Satoshi Okada, Keisuke Okamoto, Tayfun Özçelık, Qiang Pan‐Hammarström, Jean W. Pape, Rebeca Pérez de Diego, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Lluís Quintana‐Murci, Sathishkumar Ramaswamy, Laurent Rénia, Igor Resnick, Carlos Rodríguez‐Gallego, Vanessa Sancho‐Shimizu, Anna Šedivá, Mikko Seppänen, Mohammed Shahrooei, Anna Shcherbina, Ondřej Slabý, Andrew L. Snow, Pere Soler‐Palacín, András N. Spaan, Stuart G. Tangye, Ahmad Abou Tayoun, Stuart E. Turvey, K. M. Furkan Uddin, Mohammed Uddin ほか 7 名 - Nature Medicine 2022 被引用: 144

  12. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Nardo Nardocci, Elisa De Grandis, E. Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Soňa Nevšímalová, Laura Laan, Cacha Peeters‐Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis P. Crawley, Dominique Poncelin, Rosaria Vavassori, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew Sweney, Tara Newcomb, Louis Viollet, Chad D. Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptáček, Joost Haan, Michel D. Ferrari, Ann M Bye, Geoffrey Herkes, Charlotte M Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M. J. M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein - Nature Genetics 2012 被引用: 423

  13. Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

    著者: , , , , , , - PLoS Genetics 2011 被引用: 220

  14. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg 2+ Resorption

    著者: , , , , , , , , , , , , , - Science 1999 被引用: 1,137

  15. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

    著者: , , , , , , , , - Nature Genetics 2003 被引用: 944

  16. Brugada syndrome genetics is associated with phenotype severity

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - European Heart Journal 2020 被引用: 105

  17. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , COVID Human Genetic Effort, Laurent Abel, Alessandro Aiuti, Saleh Al‐Muhsen, Fahd Al‐Mulla, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Hagit Baris Feldman, Alexandre Bélot, Catherine M. Biggs, Dusan Bogunovic, Alexandre Bolze, Анастасія Бондаренко, Ahmed Aziz Bousfiha, Petter Brodin, Yenan T. Bryceson, Carlos D. Bustamante, Manish J. Butte, Giorgio Casari, John Christodoulou, Antônio Condino‐Neto, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Murkesh Desai, Beth A. Drolet, Jamila El Baghdadi, Sara Elva Espinosa‐Padilla, Jacques Fellay, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Sarah E. Henrickson, Elena W.Y. Hsieh, Eystein S. Husebye, Kohsuke Imai, Yuval Itan, Erich D. Jarvis, Timokratis Karamitros, Kai Kisand, Cheng‐Lung Ku, YL Lau, Yun Ling, C. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F. P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O’Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan‐Hammarström, Maria Papadaki ほか 41 名 - The Journal of Experimental Medicine 2022 被引用: 56

  18. Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis

    著者: , , , , , , - Current Biology 2014 被引用: 154

  19. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

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  20. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

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  21. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

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  22. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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  23. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

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  24. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

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