David Chitayat

Active 1985–2025

169
Papers
25,470
Citations
96
h-index
165
i10-index

Citations

Citations per year for David Chitayat1990: 1 citations1991: 2 citations1992: 3 citations1993: 1 citations1994: 4 citations1995: 18 citations1996: 6 citations1997: 21 citations1998: 19 citations1999: 41 citations2000: 60 citations2001: 50 citations2002: 73 citations2003: 117 citations2004: 121 citations2005: 114 citations2006: 132 citations2007: 97 citations2008: 167 citations2009: 228 citations2010: 222 citations2011: 214 citations2012: 201 citations2013: 225 citations2014: 244 citations2015: 215 citations2016: 250 citations2017: 261 citations2018: 227 citations2019: 711 citations2020: 693 citations2021: 667 citations2022: 538 citations2023: 355 citations2024: 582 citations2025: 203 citations2026: 2 citations

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 3,321 citing papers, 27% of this breakdownUnited Kingdom: 1,070 citing papers, 8.7% of this breakdownCanada: 832 citing papers, 6.8% of this breakdownGermany: 698 citing papers, 5.7% of this breakdownFrance: 625 citing papers, 5.1% of this breakdownItaly: 591 citing papers, 4.8% of this breakdownChina: 536 citing papers, 4.4% of this breakdownNetherlands: 503 citing papers, 4.1% of this breakdownAustralia: 430 citing papers, 3.5% of this breakdownJapan: 330 citing papers, 2.7% of this breakdownSpain: 283 citing papers, 2.3% of this breakdownBelgium: 265 citing papers, 2.1% of this breakdown
0%27%Other 22.8%

Fields

  • Biochemistry, Genetics and Molecular Biology51.4%
  • Medicine33.2%
  • Neuroscience8.3%
  • Immunology and Microbiology4.2%
  • Pharmacology, Toxicology and Pharmaceutics0.9%
  • Agricultural and Biological Sciences0.5%
  • Other1.5%

Topics

  • 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%
  • Other81.7%

Coauthors

All papers

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 36 more - American Journal of Medical Genetics Part A 2015 cited by 613

  2. Structural Variation of Chromosomes in Autism Spectrum Disorder

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

  3. Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome

    Authors: , , , , , , , , , , , , , , , , , , , , , , - Cell stem cell 2020 cited by 171

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 673

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

    Authors: , , , , , , , , , , , , , , - Teratology 2000 cited by 950

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 2 more - Nature Genetics 2017 cited by 221

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - JAMA Network Open 2020 cited by 97

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 377

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Science 2021 cited by 89

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

    Authors: , , , , , , , , , , , , - Human Mutation 2013 cited by 258

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 392

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 71

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula - Human Mutation 2008 cited by 430

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

    Authors: , , , , , , , , , - National Academy of Sciences, Proceedings of the National Academy of Sciences 2013 cited by 361

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 cited by 291

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Magdalena Götz, Stephen P. Robertson - Nature Genetics 2013 cited by 287

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 3 more - Biological Psychiatry 2018 cited by 182

  18. 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

  19. Mutations in EZH2 Cause Weaver Syndrome

    Authors: , , , , , , , , , , , , , , - The American Journal of Human Genetics 2011 cited by 328

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2012 cited by 262

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , - The American Journal of Human Genetics 2017 cited by 206

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

    Authors: , , , , , , , - Genes & Development 2016 cited by 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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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 and 35 more - Science Advances 2020 cited by 99

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

    Authors: , , , , , , , , , , , , , , , , , , , , , , , , , - EMBO Molecular Medicine 2021 cited by 56