David Chitayat

1985–2025 年に発表

169
論文数
25,470
被引用数
96
h 指数
165
i10 指数

被引用数

David Chitayat の年別被引用数1990 年: 被引用 1 件1991 年: 被引用 2 件1992 年: 被引用 3 件1993 年: 被引用 1 件1994 年: 被引用 4 件1995 年: 被引用 18 件1996 年: 被引用 6 件1997 年: 被引用 21 件1998 年: 被引用 19 件1999 年: 被引用 41 件2000 年: 被引用 60 件2001 年: 被引用 50 件2002 年: 被引用 73 件2003 年: 被引用 117 件2004 年: 被引用 121 件2005 年: 被引用 114 件2006 年: 被引用 132 件2007 年: 被引用 97 件2008 年: 被引用 167 件2009 年: 被引用 228 件2010 年: 被引用 222 件2011 年: 被引用 214 件2012 年: 被引用 201 件2013 年: 被引用 225 件2014 年: 被引用 244 件2015 年: 被引用 215 件2016 年: 被引用 250 件2017 年: 被引用 261 件2018 年: 被引用 227 件2019 年: 被引用 711 件2020 年: 被引用 693 件2021 年: 被引用 667 件2022 年: 被引用 538 件2023 年: 被引用 355 件2024 年: 被引用 582 件2025 年: 被引用 203 件2026 年: 被引用 2 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 3,321 件、この内訳の 27%イギリス: 引用元論文 1,070 件、この内訳の 8.7%カナダ: 引用元論文 832 件、この内訳の 6.8%ドイツ: 引用元論文 698 件、この内訳の 5.7%フランス: 引用元論文 625 件、この内訳の 5.1%イタリア: 引用元論文 591 件、この内訳の 4.8%中国: 引用元論文 536 件、この内訳の 4.4%オランダ: 引用元論文 503 件、この内訳の 4.1%オーストラリア: 引用元論文 430 件、この内訳の 3.5%日本: 引用元論文 330 件、この内訳の 2.7%スペイン: 引用元論文 283 件、この内訳の 2.3%ベルギー: 引用元論文 265 件、この内訳の 2.1%
0%27%その他 22.8%

分野

  • Biochemistry, Genetics and Molecular Biology51.4%
  • Medicine33.2%
  • Neuroscience8.3%
  • Immunology and Microbiology4.2%
  • Pharmacology, Toxicology and Pharmaceutics0.9%
  • Agricultural and Biological Sciences0.5%
  • その他1.5%

トピック

  • Genetics and Neurodevelopmental Disorders4%
  • Genomics and Rare Diseases4%
  • Genomic variations and chromosomal abnormalities3.9%
  • Autism Spectrum Disorder Research2.4%
  • Congenital heart defects research2.3%
  • Epigenetics and DNA Methylation1.7%
  • その他81.7%

共著者

全論文

検索で開く
  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez ほか 36 名 - American Journal of Medical Genetics Part A 2015 被引用: 613

  2. Structural Variation of Chromosomes in Autism Spectrum Disorder

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Péter Szatmári, Stephen W. Scherer - The American Journal of Human Genetics 2008 被引用: 1,843

  3. Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , - Cell stem cell 2020 被引用: 171

  4. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Christopher Rittey, R. Curtis Rogers, Amparo Sanchís, John B.P. Stephenson, Uta Tacke, Marianne Till, John Tolmie, Pam Tomlin, Thomas Voït, Bernhard Weschke, C. Geoffrey Woods, Pierre Lebon, David T. Bonthron, Chris P. Ponting, Andrew P. Jackson - Nature Genetics 2006 被引用: 673

  5. Birth defects after maternal exposure to corticosteroids: Prospective cohort study and meta-analysis of epidemiological studies

    著者: , , , , , , , , , , , , , , - Teratology 2000 被引用: 950

  6. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick E. Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloğlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker ほか 2 名 - Nature Genetics 2017 被引用: 221

  7. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

    著者: , , , , , , , , , , , , , , , , , , , , , , , - JAMA Network Open 2020 被引用: 97

  8. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall - npj Genomic Medicine 2016 被引用: 377

  9. Mapping the cellular origin and early evolution of leukemia in Down syndrome

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Science 2021 被引用: 89

  10. PhenoTips: Patient Phenotyping Software for Clinical and Research Use

    著者: , , , , , , , , , , , , - Human Mutation 2013 被引用: 258

  11. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott - Clinical Genetics 2015 被引用: 392

  12. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg - The American Journal of Human Genetics 2021 被引用: 71

  13. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula - Human Mutation 2008 被引用: 430

  14. Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

    著者: , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2013 被引用: 361

  15. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Sébastien Jacquemont, Pierre‐Yves Jeannet, Rosalind J Jefferson, Ram Kumar, G Kutschke, Staffan Lundberg, Charles Marques Lourenço, Ramesh Mehta, Sakkubai Naidu, Ken K. Nischal, Luís Nunes, Katrin Õunap, Michel Philippart, Prab Prabhakar, Sarah Risen, Raphael Schiffmann, Calvin Soh, John B.P. Stephenson, Helen Stewart, Jon Stone, John Tolmie, Marjo S. van der Knaap, José Pedro Vieira, Catheline Vilain, Emma Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C. Lovell, Stefan Meyer, John H. Livingston, Gabriela M. Baerlocher, Graeme C. Black, Gillian Rice, Yanick J. Crow - Nature Genetics 2012 被引用: 291

  16. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Magdalena Götz, Stephen P. Robertson - Nature Genetics 2013 被引用: 287

  17. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bezieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar, Amy Pizzino, Melanie A. Manning, Leah Slattery, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld ほか 3 名 - Biological Psychiatry 2018 被引用: 182

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

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 被引用: 51

  19. Mutations in EZH2 Cause Weaver Syndrome

    著者: , , , , , , , , , , , , , , - The American Journal of Human Genetics 2011 被引用: 328

  20. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2012 被引用: 262

  21. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    著者: , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2017 被引用: 206

  22. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

    著者: , , , , , , , - Genes & Development 2016 被引用: 107

  23. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, DDD Study, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bezieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, CAUSES Study, Martin G. Martin, Julián A. Martínez-Agosto, Undiagnosed Diseases Network, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson ほか 35 名 - Science Advances 2020 被引用: 99

  24. Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , - EMBO Molecular Medicine 2021 被引用: 56