litlas
ログインアカウント作成

Han G. Brunner

1965–2025 年に発表

別表記
Han G Brunner
269
論文数
52,775
被引用数
121
h 指数
263
i10 指数

被引用数

Han G. Brunner の年別被引用数1943 年: 被引用 1 件1955 年: 被引用 2 件1966 年: 被引用 1 件1967 年: 被引用 1 件1968 年: 被引用 2 件1970 年: 被引用 1 件1971 年: 被引用 6 件1972 年: 被引用 1 件1973 年: 被引用 3 件1974 年: 被引用 1 件1976 年: 被引用 2 件1979 年: 被引用 2 件1986 年: 被引用 1 件1987 年: 被引用 2 件1989 年: 被引用 1 件1990 年: 被引用 6 件1991 年: 被引用 4 件1992 年: 被引用 5 件1993 年: 被引用 18 件1994 年: 被引用 21 件1995 年: 被引用 49 件1996 年: 被引用 41 件1997 年: 被引用 47 件1998 年: 被引用 69 件1999 年: 被引用 83 件2000 年: 被引用 124 件2001 年: 被引用 141 件2002 年: 被引用 195 件2003 年: 被引用 219 件2004 年: 被引用 224 件2005 年: 被引用 275 件2006 年: 被引用 336 件2007 年: 被引用 393 件2008 年: 被引用 417 件2009 年: 被引用 500 件2010 年: 被引用 517 件2011 年: 被引用 607 件2012 年: 被引用 606 件2013 年: 被引用 597 件2014 年: 被引用 621 件2015 年: 被引用 633 件2016 年: 被引用 541 件2017 年: 被引用 566 件2018 年: 被引用 503 件2019 年: 被引用 1,398 件2020 年: 被引用 1,424 件2021 年: 被引用 1,507 件2022 年: 被引用 1,106 件2023 年: 被引用 765 件2024 年: 被引用 1,174 件2025 年: 被引用 492 件2026 年: 被引用 17 件1944〜1954 年は被引用が無いため表示していません1956〜1965 年は被引用が無いため表示していません1969 年は被引用が無いため表示していません1975 年は被引用が無いため表示していません1977〜1978 年は被引用が無いため表示していません1980〜1985 年は被引用が無いため表示していません1988 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 6,258 件、この内訳の 23.9%イギリス: 引用元論文 2,305 件、この内訳の 8.8%オランダ: 引用元論文 1,728 件、この内訳の 6.6%ドイツ: 引用元論文 1,698 件、この内訳の 6.5%中国: 引用元論文 1,249 件、この内訳の 4.8%フランス: 引用元論文 1,205 件、この内訳の 4.6%カナダ: 引用元論文 1,198 件、この内訳の 4.6%イタリア: 引用元論文 1,198 件、この内訳の 4.6%オーストラリア: 引用元論文 847 件、この内訳の 3.2%スペイン: 引用元論文 681 件、この内訳の 2.6%日本: 引用元論文 628 件、この内訳の 2.4%ベルギー: 引用元論文 620 件、この内訳の 2.3%
0%23.9%その他 25.1%

機関

分野

  • Biochemistry, Genetics and Molecular Biology58.2%
  • Medicine25.6%
  • Neuroscience7.9%
  • Immunology and Microbiology4.1%
  • Computer Science1.5%
  • Psychology1%
  • その他1.7%

トピック

  • Genomics and Rare Diseases5.4%
  • Genomic variations and chromosomal abnormalities4.4%
  • Genetics and Neurodevelopmental Disorders3.9%
  • Congenital heart defects research1.8%
  • Epigenetics and DNA Methylation1.6%
  • RNA modifications and cancer1.6%
  • その他81.3%

共著者

全論文

検索で開く
  1. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

    著者: Siddharth Srivastava, Jamie Love‐Nichols, Kira A. Dies, David H. Ledbetter, Christa Lese Martin, Wendy K. Chung, Helen V. Firth, Thomas Frazier, Robin Hansen, Lisa M. Prock, Han G. Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Şahin, David T. Miller - Genetics in Medicine 2019 被引用: 711

  2. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

    著者: Paul M. Thompson, Jason L. Stein, Sarah E. Medland, Derrek P. Hibar, Alejandro Arias Vásquez, Miguel E. Rentería, Roberto Toro, Neda Jahanshad, Günter Schumann, Barbara Franke, Margaret J. Wright, Nicholas G. Martin, Ingrid Agartz, Martin Alda, Saud Alhusaini, Laura Almasy, Jorge Almeida, Kathryn Alpert, Nancy C. Andreasen, Ole A. Andreassen, Liana G. Apostolova, Katja Appel, Nicola J. Armstrong, Benjamin S. Aribisala, Mark E. Bastin, Michael Bauer, Carrie E. Bearden, Ørjan Bergmann, Elisabeth B. Binder, John Blangero, H. Jeremy Bockholt, Erlend Bøen, Catherine Bois, Dorret I. Boomsma, Tom Booth, Ian Bowman, Janita Bralten, Rachel M. Brouwer, Han G. Brunner, David G. Brohawn, Randy L. Buckner, Jan K. Buitelaar, Kazima Bulayeva, Juan Bustillo, Vince D. Calhoun, Dara M. Cannon, Rita M. Cantor, Melanie A. Carless, Xavier Caseras, Gianpiero L. Cavalleri, M. Mallar Chakravarty, Kiki Chang, Christopher R. K. Ching, Andrea Christoforou, Sven Cichon, Vincent P. Clark, Patricia Conrod, Giovanni Coppola, Benedicto Crespo‐Facorro, Joanne E. Curran, Michael Czisch, Ian J. Deary, Eco J. C. de Geus, Anouk den Braber, Giuseppe Delvecchio, Chantal Depondt, Lieuwe de Haan, Greig I. de Zubicaray, Danai Dima, Ralica Dimitrova, Srdjan Djurovic, Hong‐Wei Dong, Gary Donohoe, Ravindranath Duggirala, Thomas D. Dyer, Stefan Ehrlich, Carl Johan Ekman, Torbjørn Elvsåshagen, Louise Emsell, Susanne Erk, Thomas Espeseth, Jesen Fagerness, Scott C. Fears, Iryna O. Fedko, Guillén Fernández, Simon E. Fisher, Tatiana Foroud, Peter T. Fox, Clyde Francks, Sophia Frangou, Eva Frey, Thomas Frodl, Vincent Frouin, Hugh Garavan, Sudheer Giddaluru, David C. Glahn, Beata R. Godlewska, Rita Z. Goldstein, Randy L. Gollub, Hans J. Grabe ほか 189 名 - Brain Imaging and Behavior 2014 被引用: 876

  3. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

    著者: Yanick J. Crow, Bruce E. Hayward, Rekha Parmar, Peter Robins, Andrea Leitch, Manir Ali, Deborah N. Black, Hans van Bokhoven, Han G. Brunner, Ben C.J. Hamel, Peter Corry, Frances M. Cowan, Suzanna G.M. Frints, Joerg Klepper, John H. Livingston, Sally Ann Lynch, R. Massey, Jean François Meritet, Jacques L. Michaud, G Ponsot, Thomas Voït, Pierre Lebon, David T. Bonthron, Andrew P. Jackson, Deborah E. Barnes, Tomas Lindahl - Nature Genetics 2006 被引用: 892

  4. Presence of Genetic Variants Among Young Men With Severe COVID-19

    著者: Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C. van Deuren, Marloes Steehouwer, Simon V. van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen of ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P. Bleeker‐Rovers, Leo A. B. Joosten, Helger G. Yntema, Christian Gilissen, Marcel Nelen, J.W.M. van der Meer, Han G. Brunner, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen - JAMA 2020 被引用: 832

  5. Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

    著者: Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers - New England Journal of Medicine 2012 被引用: 1,578

  6. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    著者: Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller - The American Journal of Human Genetics 2017 被引用: 453

  7. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

    著者: Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Gîrdea, Michael Gonzalez, Melissa Haendel, Ada Hamosh, Ingrid A. Holm, Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Chris Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, Nara Sobreira, G. Jawahar Swaminathan, Peter E.M. Taschner, Sharon F. Terry, Nicole Washington, Stephan Züchner, Kym M. Boycott, Heidi L. Rehm - Human Mutation 2015 被引用: 488

  8. Implications of Genetic Testing in Dilated Cardiomyopathy

    著者: Job A.J. Verdonschot, Mark R. Hazebroek, Ingrid P.C. Krapels, Michiel T.H.M. Henkens, Anne G. Raafs, Ping Wang, Jort J. Merken, Godelieve R.F. Claes, Els K. Vanhoutte, Arthur van den Wijngaard, Stéphane Heymans, Han G. Brunner - Circulation Genomic and Precision Medicine 2020 被引用: 121

  9. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

    著者: Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Giuseppe Zampino, Han G. Brunner, Hannie Kremer, Ineke van der Burgt, Andrew H. Crosby, Andra Ion, Steve Jeffery, Kamini Kalidas, Michael A. Patton, Raju Kucherlapati, Bruce D. Gelb - Nature Genetics 2001 被引用: 1,735

  10. De novo mutations in human genetic disease

    著者: Joris A. Veltman, Han G. Brunner - Nature Reviews Genetics 2012 被引用: 878

  11. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

    著者: Marjolijn J. L. Ligtenberg, Roland P. Kuiper, Tsun Leung Chan, Monique Goossens, Konnie M. Hebeda, Marsha Voorendt, Tracy Y H Lee, Daniëlle Bodmer, Eveline Hoenselaar, Sandra J. B. Hendriks-Cornelissen, Wai Yin Tsui, Chi Kwan Kong, Han G. Brunner, Ad Geurts van Kessel, Siu Tsan Yuen, J. Han van Krieken, Suet Yi Leung, Nicoline Hoogerbrugge - Nature Genetics 2008 被引用: 819

  12. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    著者: Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ’t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, T. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, C. Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernandéz-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem ほか 123 名 - European Journal of Human Genetics 2021 被引用: 103

  13. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    著者: Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra - The American Journal of Human Genetics 2015 被引用: 339

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

    著者: Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers - European Journal of Human Genetics 2022 被引用: 94

  15. Genome sequencing identifies major causes of severe intellectual disability

    著者: Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W.M. van Bon, Marjolein H. Willemsen, Michael Kwint, Irene M. Janssen, Alexander Hoischen, Annette Schenck, Richard A. Leach, Robert J. Klein, Rick Tearle, Tan Bo, Rolph Pfundt, Helger G. Yntema, Bert B.A. de Vries, Tjitske Kleefstra, Han G. Brunner, Lisenka E.L.M. Vissers, Joris A. Veltman - Nature 2014 被引用: 1,159

  16. A text-mining analysis of the human phenome

    著者: Marc A. van Driel, Jorn Bruggeman, Gert Vriend, Han G. Brunner, Jack A. M. Leunissen - European Journal of Human Genetics 2006 被引用: 669

  17. Natural History of MYH7-Related Dilated Cardiomyopathy

    著者: Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro Peñalver, Annette F. Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia T. Bilińska, Diane Fatkin, María Eugenia Fuentes‐Cañamero, José Manuel García‐Pinilla, Ana García‐Álvarez, Francesca Girolami, Roberto Barriales‐Villa, Carles Díez‐López, Luís R. Lopes, Karim Wahbi, Ana García‐Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez‐Palomares, María Gallego‐Delgado, Benjamin Meder, Miloš Kubánek, Frederikke Hansen, María Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Luis Ruiz‐Guerrero, Georgia Sarquella‐Brugada, Alberto José Perez-Perez, Francisco Bermúdez-Jiménez, Tomás Ripoll‐Vera, Torsten B. Rasmussen, M. Jansen, María Sabater‐Molina, Perry M Elliot, Pablo García‐Pavía, Eva Cabrera-Romero, Marta Cobo Marcos, Luis Escobar-López, Fernándo Domínguez, Esther González-López, Juan R. Gimeno, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, María Ángeles Espinosa, Ana I. Fernández, Silvia Vilches, Cristina Mateo Gómez, Juan Gómez, Eliécer Coto, J.J.R. Reguero, Stéphane Heymans, Han G. Brunner, Javier López, Grażyna Truszkowska, Rafał Płoski, Przemysław Chmielewski, Renée Johnson, Ainhoa Robles Mezcua, Arancha Díaz-Expósito, Alejandro Pérez Cabeza, Clara Jiménez-Rubio, Vicente Climent Payá, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Ángela López‐Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsová, Jens Mogensen, Sergi César, Óscar Campuzano, Raúl Franco Gutiérrez, Jorge Álvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martínez, Rosa Macías, Juan Jiménez‐Jáimez, María Luisa Peña‐Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras‐Flores, Martín Negreira‐Caamaño ほか 8 名 - Journal of the American College of Cardiology 2022 被引用: 89

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

    著者: Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen - Nature Neuroscience 2016 被引用: 465

  19. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

    著者: Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma López, Maarten Arends, Krysta Voesenek, Marijke N. Zonneveld, Tim M. Strom, Thomas Meitinger, Han G. Brunner, Carel B. Hoyng, L. Ingeborgh van den Born, Klaus Rohrschneider, Frans P.M. Cremers - The American Journal of Human Genetics 2006 被引用: 676

  20. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

    著者: Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdallah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert Mortier, Han G. Brunner, Peter H. Byers, Jennifer E. Van Eyk, Lut Van Laer, Harry C. Dietz, Bart Loeys - Nature Genetics 2012 被引用: 464

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

    著者: Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, 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

  22. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    著者: Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie ほか 18 名 - The American Journal of Human Genetics 2007 被引用: 450

  23. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

    著者: Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke P.C. Grutters, Joris A. Veltman, Michèl A.A.P. Willemsen - Genetics in Medicine 2017 被引用: 283

  24. Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

    著者: Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, W.M. Wissink-Lindhout, Michaela Fencková, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven - The American Journal of Human Genetics 2012 被引用: 271