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Jozef Gécz

1996–2025 年に発表

別表記
Jozef Gecz
183
論文数
25,881
被引用数
97
h 指数
177
i10 指数

被引用数

Jozef Gécz の年別被引用数1992 年: 被引用 1 件1996 年: 被引用 3 件1997 年: 被引用 4 件1998 年: 被引用 7 件1999 年: 被引用 13 件2000 年: 被引用 22 件2001 年: 被引用 18 件2002 年: 被引用 26 件2003 年: 被引用 52 件2004 年: 被引用 56 件2005 年: 被引用 94 件2006 年: 被引用 88 件2007 年: 被引用 116 件2008 年: 被引用 145 件2009 年: 被引用 179 件2010 年: 被引用 253 件2011 年: 被引用 251 件2012 年: 被引用 240 件2013 年: 被引用 231 件2014 年: 被引用 238 件2015 年: 被引用 275 件2016 年: 被引用 275 件2017 年: 被引用 279 件2018 年: 被引用 282 件2019 年: 被引用 864 件2020 年: 被引用 1,038 件2021 年: 被引用 1,003 件2022 年: 被引用 768 件2023 年: 被引用 499 件2024 年: 被引用 921 件2025 年: 被引用 316 件2026 年: 被引用 5 件1993〜1995 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 2,797 件、この内訳の 23.8%イギリス: 引用元論文 971 件、この内訳の 8.2%ドイツ: 引用元論文 729 件、この内訳の 6.2%中国: 引用元論文 716 件、この内訳の 6.1%オーストラリア: 引用元論文 661 件、この内訳の 5.6%フランス: 引用元論文 648 件、この内訳の 5.5%カナダ: 引用元論文 614 件、この内訳の 5.2%イタリア: 引用元論文 586 件、この内訳の 5%オランダ: 引用元論文 519 件、この内訳の 4.4%日本: 引用元論文 274 件、この内訳の 2.3%ベルギー: 引用元論文 268 件、この内訳の 2.3%スペイン: 引用元論文 257 件、この内訳の 2.2%
0%23.8%その他 23.2%

機関

分野

  • Biochemistry, Genetics and Molecular Biology65.7%
  • Medicine19.5%
  • Neuroscience11.5%
  • Immunology and Microbiology0.8%
  • Psychology0.7%
  • Agricultural and Biological Sciences0.6%
  • その他1.2%

トピック

  • Genetics and Neurodevelopmental Disorders10.1%
  • Genomics and Rare Diseases5.7%
  • Genomic variations and chromosomal abnormalities4.8%
  • Autism Spectrum Disorder Research3.5%
  • RNA modifications and cancer3.4%
  • RNA Research and Splicing2.9%
  • その他69.6%

共著者

全論文

検索で開く
  1. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    著者: Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Véber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M. A. M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković - The American Journal of Human Genetics 2020 被引用: 334

  2. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    著者: Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler - Nature Genetics 2017 被引用: 580

  3. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    著者: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Genetics and Genomics Advances 2021 被引用: 157

  4. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

    著者: Mari Niemi, Hilary C. Martin, Daniel L Rice, Giuseppe Gallone, Scott D. Gordon, Martin Kelemen, Kerrie McAloney, Jeremy F. McRae, Elizabeth J. Radford, Sui Yu, Jozef Gécz, Nicholas G. Martin, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett - Nature 2018 被引用: 345

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

    著者: Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Elizabeth Thompson, Brian J. O’Roak, 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

  6. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    著者: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković - Human Mutation 2022 被引用: 80

  7. 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

  8. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

    著者: Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel G. Laing, Sylvia A. Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John V. Pearson, Nicola Waddell, Christopher Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gécz, Adam Jaffé, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew Mallett, Julie McGaughran, Linda Mileshkin, Kátia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard W. Tothill, Deborah White, Sally L. Dunwoodie, Peter T. Simpson, Peta Phillips, Marie‐Jo Brion, Keri Finlay, Michael C. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Séan Murray, Kathy Wells, John Cannings, Andrew Sinclair, John Christodoulou, Kathryn N. North - The American Journal of Human Genetics 2023 被引用: 72

  9. Cerebral palsy: causes, pathways, and the role of genetic variants

    著者: Alastair H. MacLennan, Suzanna Thompson, Jozef Gécz - American Journal of Obstetrics and Gynecology 2015 被引用: 410

  10. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

    著者: Christine Phillips-Krawczak, Amika Singla, Petro Starokadomskyy, Zhi-Hui Deng, Douglas G. Osborne, Haiying Li, Christopher J. Dick, Timothy S. Gomez, Megan M Koenecke, Jin‐San Zhang, Haiming Dai, Luis Sifuentes-Dominguez, Linda N. Geng, Scott H. Kaufmann, Marco Y. Hein, Mathew Wallis, Julie McGaughran, Jozef Gécz, Bart van de Sluis, Daniel D. Billadeau, Ezra Burstein - Molecular Biology of the Cell 2014 被引用: 244

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

    著者: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, 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

  12. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

    著者: Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz - Human Molecular Genetics 2013 被引用: 166

  13. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

    著者: Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, Katy Hills, David Jones, Tatiana Mironenko, Janet Perry, Jennifer Varian, Sofie West, Sara Widaa, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, David Richardson, Andy Jenkinson, Rebecca Shepherd, Keiran Raine, Jenny Moon, Yin Luo, Josep Parnau, Shambhu S. Bhat, Alison Gardner, Mark Corbett, Doug A. Brooks, Paul Q. Thomas, Emma J. Parkinson-Lawrence, Mary Porteous, John P Warner, T. L. Sanderson, Pauline Pearson, Richard J. Simensen, Cindy Skinner, George Hoganson, Duane Superneau, Richard Wooster, Martin Bobrow, Gillian Turner, Roger E. Stevenson, Charles E. Schwartz, P. Andrew Futreal, Anand Srivastava, Michael R. Stratton, Jozef Gécz - Nature Genetics 2007 被引用: 294

  14. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

    著者: Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C. Sierant, Sheetal Shetty, Sandra M. Nordlie, Aureliane Elie, Mark Corbett, Bethany Y. Norton, Clare L. van Eyk, Shozeb Haider, Brandon S. Guida, Helen Magee, James H. Liu, Stephen F. Pastore, John B. Vincent, Janice Brunstrom-Hernandez, Antigone Papavasileiou, Michael Fahey, Jesia G. Berry, Kelly Harper, Chongchen Zhou, Junhui Zhang, Boyang Li, Hongyu Zhao, Jennifer Heim, Dani L. Webber, Mahalia S. B. Frank, Lei Xia, Yiran Xu, Dengna Zhu, Bohao Zhang, Amar H. Sheth, James Knight, Christopher Castaldi, Irina R. Tikhonova, Francesc López‐Giráldez, Boris Keren, Sandra Whalen, Julien Buratti, Diane Doummar, Megan Cho, Kyle Retterer, Francisca Millan, Yangong Wang, Jeff L. Waugh, Lance H. Rodan, Julie S. Cohen, Ali Fatemi, Angela E. Lin, J. P. Phillips, Timothy Feyma, Suzanna C. MacLennan, Spencer Vaughan, Kylie Crompton, Susan Reid, Dinah Reddihough, Qing Shang, Chao Gao, Iona Novak, Nadia Badawi, Yana A. Wilson, Sarah McIntyre, Shrikant Mane, Xiaoyang Wang, David J. Amor, Daniela C. Zarnescu, Qiongshi Lu, Qinghe Xing, Changlian Zhu, Kaya Bilgüvar, Sergio Padilla‐Lopez, Richard P. Lifton, Jozef Gécz, Alastair H. MacLennan, Michael C. Kruer - Nature Genetics 2020 被引用: 175

  15. Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations inFTSJ1

    著者: Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky - Human Mutation 2015 被引用: 147

  16. In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

    著者: Na Li, Pei Zhou, Hongmei Tang, Lu He, Xiang Fang, Jinxiang Zhao, Xin Wang, Yifei Qi, Chuanbo Sun, Yunting Lin, Fengying Qin, Miaomiao Yang, Zhan Zhang, Caihua Liao, Shuxin Zheng, Xiaofang Peng, Ting Xue, Qian‐Ying Zhu, Hong Li, Yan Li, Liru Liu, Jingyu Huang, Li Liu, Changgeng Peng, Angela M. Kaindl, Jozef Gécz, Dingding Han, Dong Liu, Kaishou Xu, Hao Hu - Brain 2021 被引用: 78

  17. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    著者: Linda S. Weaving, John Christodoulou, Sarah Williamson, K. Friend, Olivia L. D. McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J. Pelka, Patrick Tam, Catherine M. Watson, Hooshang Lahooti, Carolyn Ellaway, Bruce Bennetts, Helen Leonard, Jozef Gécz - The American Journal of Human Genetics 2004 被引用: 500

  18. The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

    著者: Lachlan A. Jolly, Claire C. Homan, R. Jacob, Simon C. Barry, Jozef Gécz - Human Molecular Genetics 2013 被引用: 134

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

    著者: Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, 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

  20. Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

    著者: Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean‐Pierre Fryns, Guy Froyen - The American Journal of Human Genetics 2005 被引用: 627

  21. Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

    著者: Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina A. Moser, Martine Raynaud, Jürgen Sperner, Jean‐Pierre Fryns, E. Schwinger, Jozef Gécz, Hans‐Hilger Ropers, Vera M. Kalscheuer - The American Journal of Human Genetics 2004 被引用: 323

  22. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

    著者: G. McMichael, Matthew N. Bainbridge, Eric Haan, Mark Corbett, Alison Gardner, Suzanna Thompson, Bregje W.M. van Bon, Clare L. van Eyk, J. L. BROADBENT, Chandra A. Reynolds, Michael O’Callaghan, Lam Son Nguyen, David L. Adelson, Remo Russo, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, Jozef Gécz, Alastair H. MacLennan - Molecular Psychiatry 2015 被引用: 238

  23. Severe childhood speech disorder

    著者: Michael S. Hildebrand, Victoria E. Jackson, Thomas Scerri, Olivia van Reyk, Matthew Coleman, Ruth Braden, Samantha J. Turner, Kristin A. Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry‐Fielder, Georgia Paxton, Michael J. Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, Noni Davis, Sheena Reilly, Martin B. Delatycki, Frédérique Liégeois, Alan Connelly, Jozef Gécz, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela Morgan - Neurology 2020 被引用: 120

  24. A Upf3b-mutant mouse model with behavioral and neurogenesis defects

    著者: Lulu Huang, Eleen Y. Shum, Steven Jones, C-H Lou, Jennifer N. Chousal, Hyun Young Kim, Amanda J. Roberts, Lachlan A. Jolly, Josh L. Espinoza, David Skarbrevik, Mimi H. Phan, Heidi Cook‐Andersen, Neal R. Swerdlow, Jozef Gécz, Miles Wilkinson - Molecular Psychiatry 2017 被引用: 79