Bert B.A. de Vries

1994–2025 年に発表

別表記
Bert B A de Vries · Bert B. A. de Vries · Bert B. A. De Vries
118
論文数
22,704
被引用数
76
h 指数
111
i10 指数

被引用数

Bert B.A. de Vries の年別被引用数1955 年: 被引用 1 件1995 年: 被引用 3 件1996 年: 被引用 3 件1997 年: 被引用 5 件1998 年: 被引用 4 件1999 年: 被引用 3 件2000 年: 被引用 5 件2001 年: 被引用 7 件2002 年: 被引用 9 件2003 年: 被引用 13 件2004 年: 被引用 29 件2005 年: 被引用 81 件2006 年: 被引用 91 件2007 年: 被引用 159 件2008 年: 被引用 134 件2009 年: 被引用 221 件2010 年: 被引用 226 件2011 年: 被引用 230 件2012 年: 被引用 262 件2013 年: 被引用 263 件2014 年: 被引用 313 件2015 年: 被引用 351 件2016 年: 被引用 343 件2017 年: 被引用 339 件2018 年: 被引用 358 件2019 年: 被引用 714 件2020 年: 被引用 657 件2021 年: 被引用 625 件2022 年: 被引用 436 件2023 年: 被引用 374 件2024 年: 被引用 544 件2025 年: 被引用 255 件2026 年: 被引用 20 件1956〜1994 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 2,752 件、この内訳の 22.8%イギリス: 引用元論文 1,078 件、この内訳の 8.9%オランダ: 引用元論文 817 件、この内訳の 6.8%ドイツ: 引用元論文 788 件、この内訳の 6.5%フランス: 引用元論文 640 件、この内訳の 5.3%カナダ: 引用元論文 595 件、この内訳の 4.9%中国: 引用元論文 538 件、この内訳の 4.5%イタリア: 引用元論文 534 件、この内訳の 4.4%オーストラリア: 引用元論文 421 件、この内訳の 3.5%スペイン: 引用元論文 329 件、この内訳の 2.7%ベルギー: 引用元論文 312 件、この内訳の 2.6%スイス: 引用元論文 244 件、この内訳の 2%
0%22.8%その他 25.1%

分野

  • Biochemistry, Genetics and Molecular Biology70.1%
  • Medicine16.7%
  • Neuroscience8.9%
  • Computer Science1.6%
  • Agricultural and Biological Sciences0.7%
  • Immunology and Microbiology0.6%
  • その他1.4%

トピック

  • Genomics and Rare Diseases9.5%
  • Genomic variations and chromosomal abnormalities9.1%
  • Genetics and Neurodevelopmental Disorders7.8%
  • Congenital heart defects research3.6%
  • Autism Spectrum Disorder Research2.9%
  • Biomedical Text Mining and Ontologies2.3%
  • その他64.8%

共著者

全論文

検索で開く
  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Maud de Dieuleveult, Vinícius de Souza, Bert B.A. de Vries, Esther de Vries, J. Raymond DePaulo, Beáta Dérfalvi, Ferdinand Dhombres, Claudia Diaz‐Byrd, Alexander J.M. Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V. Firth, Yun Freudenberg‐Hua, Janice M. Fullerton, Davera Gabriel, Kimberly Gilmour, Jessica L. Giordano, Fernando S. Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin M. Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O.B. Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A. Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S. Ladewig, David Lagorce, Meng‐Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis‐Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L. Marazita, Víctor Martínez‐Glez, Toby H McHenry, Melvin G. McInnis, Julie A. McMurry, Michaela Mihulová, Caitlin E. Millett, Philip B. Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado ほか 76 名 - Nucleic Acids Research 2023 被引用: 375

  2. Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

    著者: , , , , , , , , , , , , , , , , - New England Journal of Medicine 2012 被引用: 1,578

  3. The Human Phenotype Ontology in 2017

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O. B. Jacobsen, Tudor Groza, Damian Smedley, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2016 被引用: 801

  4. Refining analyses of copy number variation identifies specific genes associated with developmental delay

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler - Nature Genetics 2014 被引用: 758

  5. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , - European Journal of Human Genetics 2022 被引用: 94

  6. Genome sequencing identifies major causes of severe intellectual disability

    著者: , , , , , , , , , , , , , , , , , , , , - Nature 2014 被引用: 1,159

  7. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Marcel van Gerven, Lisenka E.L.M. Vissers, Bert B.A. de Vries - Nature Genetics 2023 被引用: 74

  8. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    著者: , , , , , , , , , , , , , , , , , , , , , - Nature Neuroscience 2016 被引用: 465

  9. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, Andrea J. Ace, Alpha Amatya, Irina Astrovskaya, Asif Bashar ほか 163 名 - Genome Medicine 2021 被引用: 117

  10. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2014 被引用: 377

  11. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Steven Van Vooren, Ronald J. Wapner, Andrew O.M. Wilkie, Caroline F. Wright, Anneke T. Vulto‐van Silfhout, Nicole de Leeuw, Bert B.A. de Vries, Nicole L. Washingthon, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa Haendel, Damian Smedley, Suzanna Lewis, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2013 被引用: 837

  12. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Mieke M. van Haelst, Sergi Villatoro Gomez, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas ほか 81 名 - Nature 2011 被引用: 480

  13. A de novo paradigm for mental retardation

    著者: , , , , , , , , , , , , , , - Nature Genetics 2010 被引用: 854

  14. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson ほか 49 名 - Nature Genetics 2016 被引用: 354

  15. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon - The American Journal of Human Genetics 2018 被引用: 88

  16. Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

    著者: , , , , , , , , , , , , , , , , - Autophagy 2021 被引用: 76

  17. The Genetics of Intellectual Disability

    著者: , , - Brain Sciences 2023 被引用: 64

  18. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Fleur Vansenne, Xiadong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu - Genetics in Medicine 2021 被引用: 91

  19. 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

  20. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    著者: , , , , , , , , , , , , , , , , , , , , , - Molecular Psychiatry 2015 被引用: 207

  21. 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

  22. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries - The American Journal of Human Genetics 2017 被引用: 170

  23. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Vincent d’Hardemare, Deciphering Developmental Disorders Study, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, NIHR BioResource, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Undiagnosed Diseases Network, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko ほか 14 名 - Brain 2020 被引用: 115

  24. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

    著者: , , , , , , , , , , , , , - Nature Genetics 2004 被引用: 1,277