Giorgio Casari

Active 1987–2024

96
Papers
18,630
Citations
71
h-index
92
i10-index

Citations

Citations per year for Giorgio Casari1988: 7 citations1989: 2 citations1990: 2 citations1991: 5 citations1992: 14 citations1993: 16 citations1994: 7 citations1995: 20 citations1996: 23 citations1997: 32 citations1998: 33 citations1999: 76 citations2000: 95 citations2001: 82 citations2002: 88 citations2003: 134 citations2004: 137 citations2005: 152 citations2006: 195 citations2007: 176 citations2008: 160 citations2009: 131 citations2010: 148 citations2011: 143 citations2012: 152 citations2013: 116 citations2014: 106 citations2015: 116 citations2016: 103 citations2017: 90 citations2018: 80 citations2019: 256 citations2020: 405 citations2021: 958 citations2022: 836 citations2023: 628 citations2024: 729 citations2025: 218 citations2026: 8 citations

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,252 citing papers, 22.3% of this breakdownUnited Kingdom: 749 citing papers, 7.4% of this breakdownItaly: 739 citing papers, 7.3% of this breakdownGermany: 664 citing papers, 6.6% of this breakdownFrance: 626 citing papers, 6.2% of this breakdownCanada: 398 citing papers, 3.9% of this breakdownChina: 385 citing papers, 3.8% of this breakdownNetherlands: 297 citing papers, 2.9% of this breakdownAustralia: 289 citing papers, 2.9% of this breakdownJapan: 271 citing papers, 2.7% of this breakdownSpain: 265 citing papers, 2.6% of this breakdownSwitzerland: 221 citing papers, 2.2% of this breakdown
0%22.3%Other 29.2%

Fields

  • Medicine49.6%
  • Biochemistry, Genetics and Molecular Biology28.1%
  • Neuroscience12.7%
  • Immunology and Microbiology6.1%
  • Nursing1.5%
  • Agricultural and Biological Sciences0.7%
  • Other1.3%

Topics

  • 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%
  • Other76.8%

Coauthors

All papers

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 652 more - Science 2020 cited by 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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 95 more - Science Immunology 2021 cited by 631

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 13 more - Science Immunology 2021 cited by 420

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 63 more - Nature 2022 cited by 391

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 126 more - Nature 2023 cited by 105

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 144 more - The Journal of Experimental Medicine 2022 cited by 128

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 1,082 more - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 cited by 193

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 74 more - The Journal of Experimental Medicine 2022 cited by 115

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

    Authors: , , , , , , , , - EMBO Molecular Medicine 2016 cited by 145

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 1,410 more - Genome Medicine 2023 cited by 77

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 7 more - Nature Medicine 2022 cited by 144

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 423

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

    Authors: , , , , , , - PLoS Genetics 2011 cited by 220

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

    Authors: , , , , , , , , , , , , , - Science 1999 cited by 1,137

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

    Authors: , , , , , , , , - Nature Genetics 2003 cited by 944

  16. Brugada syndrome genetics is associated with phenotype severity

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , - European Heart Journal 2020 cited by 105

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 41 more - The Journal of Experimental Medicine 2022 cited by 56

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

    Authors: , , , , , , - Current Biology 2014 cited by 154

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel Conway, Carolina Prando, Laire Schidlowski, María T. Martínez-Saavedra, Rafael Alfaro, Felipe Rodrı́guez de Castro, ESID Registry Working Party, Gerhard Kindle, Nizar Mahlaoui, Markus G. Seidel, Lougaris Vassilios, Mikko Seppänen, 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 and 65 more - The Journal of Experimental Medicine 2023 cited by 56

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Éric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz - Nature Communications 2019 cited by 166

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

    Authors: , , , , , , , , , , , , - Cell 1998 cited by 833

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Stefan Aretz, Gabriel Capellá, Richarda M. de Voer, D. Gareth Evans, Jose Garcia Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Solve-RD DITF-ITHACA, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Solve-RD DITF-euroNMD, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna and 247 more - European Journal of Human Genetics 2021 cited by 74

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M. Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Undiagnosed Diseases Network, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martín G. Martín, Julián A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves‐Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Telethon Undiagnosed Diseases Program, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh Nagata - Brain 2022 cited by 51

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpaß, Bernhard Horsthemke, Samuel F. Berkovic, Francesca Bisulli, Francesco Brancati, Laura Canafoglia, Giorgio Casari, Renzo Guerrini, Hiroyuki Ishiura, Laura Licchetta, Davide Mei, Tommaso Pippucci, Lynette G. Sadleir, Ingrid E. Scheffer, Pasquale Striano, Paolo Tinuper, Shoji Tsuji, Federico Zara, Éric Leguern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gécz, Mark Corbett, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne - Nature Communications 2019 cited by 170