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Charles E. Schwartz

1986–2025 年に発表

131
論文数
21,397
被引用数
93
h 指数
129
i10 指数

被引用数

Charles E. Schwartz の年別被引用数1933 年: 被引用 1 件1981 年: 被引用 1 件1987 年: 被引用 8 件1988 年: 被引用 6 件1989 年: 被引用 3 件1990 年: 被引用 7 件1991 年: 被引用 5 件1992 年: 被引用 21 件1993 年: 被引用 29 件1994 年: 被引用 33 件1995 年: 被引用 21 件1996 年: 被引用 25 件1997 年: 被引用 35 件1998 年: 被引用 57 件1999 年: 被引用 60 件2000 年: 被引用 62 件2001 年: 被引用 48 件2002 年: 被引用 49 件2003 年: 被引用 61 件2004 年: 被引用 74 件2005 年: 被引用 72 件2006 年: 被引用 113 件2007 年: 被引用 138 件2008 年: 被引用 188 件2009 年: 被引用 297 件2010 年: 被引用 331 件2011 年: 被引用 275 件2012 年: 被引用 230 件2013 年: 被引用 254 件2014 年: 被引用 221 件2015 年: 被引用 214 件2016 年: 被引用 170 件2017 年: 被引用 144 件2018 年: 被引用 186 件2019 年: 被引用 590 件2020 年: 被引用 643 件2021 年: 被引用 673 件2022 年: 被引用 517 件2023 年: 被引用 339 件2024 年: 被引用 591 件2025 年: 被引用 206 件2026 年: 被引用 2 件1934〜1980 年は被引用が無いため表示していません1982〜1986 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 2,694 件、この内訳の 26.9%イギリス: 引用元論文 808 件、この内訳の 8.1%カナダ: 引用元論文 580 件、この内訳の 5.8%ドイツ: 引用元論文 573 件、この内訳の 5.7%フランス: 引用元論文 543 件、この内訳の 5.4%オランダ: 引用元論文 469 件、この内訳の 4.7%中国: 引用元論文 456 件、この内訳の 4.5%イタリア: 引用元論文 446 件、この内訳の 4.4%オーストラリア: 引用元論文 386 件、この内訳の 3.8%日本: 引用元論文 243 件、この内訳の 2.4%スペイン: 引用元論文 239 件、この内訳の 2.4%ベルギー: 引用元論文 208 件、この内訳の 2.1%
0%26.9%その他 23.8%

機関

分野

  • Biochemistry, Genetics and Molecular Biology63.8%
  • Medicine18%
  • Neuroscience12.7%
  • Agricultural and Biological Sciences2.9%
  • Immunology and Microbiology0.9%
  • Psychology0.5%
  • その他1.2%

トピック

  • Genetics and Neurodevelopmental Disorders8.8%
  • Genomic variations and chromosomal abnormalities5%
  • Autism Spectrum Disorder Research4.4%
  • Genomics and Rare Diseases4%
  • Epigenetics and DNA Methylation2.9%
  • Congenital heart defects research2.8%
  • その他72.1%

共著者

全論文

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  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. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

    著者: Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Erfan Aref‐Eshghi, Laila C. Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E. Schwartz, Roger E. Stevenson, Steven A. Skinner, Barbara R. DuPont, Robin S. Fletcher, Tuğçe B. Balcı, Victoria Mok Siu, Jorge L. Granadillo, Jennefer Masters, Mike Kadour, Michael J. Friez, Mieke M. van Haelst, Marcel M. A. M. Mannens, Raymond J. Louie, Jennifer A. Lee, Matthew L. Tedder, Mariëlle Alders - Genetics in Medicine 2021 被引用: 200

  4. 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

  5. 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

  6. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    著者: Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković - The American Journal of Human Genetics 2019 被引用: 206

  7. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    著者: Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković - The American Journal of Human Genetics 2018 被引用: 180

  8. 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

  9. Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

    著者: Anand K. Srivastava, Charles E. Schwartz - Neuroscience & Biobehavioral Reviews 2014 被引用: 245

  10. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    著者: Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin‐Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan - Genetics in Medicine 2018 被引用: 221

  11. Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

    著者: Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Hong, Krishan Ariyasiri, Jung Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong Soo Lee, Hyung-Goo Kim, Cheol‐Hee Kim - Molecular Autism 2017 被引用: 130

  12. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    著者: Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C.S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. M. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković - Nature Communications 2018 被引用: 124

  13. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    著者: Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Håkon Håkonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković - Clinical Epigenetics 2019 被引用: 128

  14. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

    著者: Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai - Nature Communications 2017 被引用: 103

  15. X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

    著者: James Amos‐Landgraf, Amy A. Cottle, Robert M. Plenge, Mike Friez, Charles E. Schwartz, John Longshore, Huntington F. Willard - The American Journal of Human Genetics 2006 被引用: 355

  16. Decreased tryptophan metabolism in patients with autism spectrum disorders

    著者: Luigi Boccuto, Chin‐Fu Chen, Ayla R Pittman, Cindy Skinner, Heather McCartney, Kelly A. Jones, Barry R. Bochner, Roger E. Stevenson, Charles E. Schwartz - Molecular Autism 2013 被引用: 173

  17. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

    著者: Claire C. Homan, Raman Kumar, Lam Son Nguyen, Eric Haan, F. Lucy Raymond, Fatima Abidi, Martine Raynaud, Charles E. Schwartz, Stephen A. Wood, Jozef Gécz, Lachlan A. Jolly - The American Journal of Human Genetics 2014 被引用: 151

  18. An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

    著者: Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten - European Journal of Human Genetics 2020 被引用: 84

  19. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    著者: Patrick Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O’Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matthew J. Blow, Chris Greenman, Yali Xue, Chris Tyler‐Smith, Deborah J. Thompson, Kristian Gray, J. M. Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, R. James Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon W. Teague, Adam P. Butler, Andy Jenkinson, Mingming Jia, David S. Richardson, Rebecca Shepherd, Richard Wooster, María‐Isabel Tejada, Francisco Martı́nez, Gemma L. Carvill, René Goliath, Arjan P.M. de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans‐Hilger Ropers, Fatima Abidi, Anand K. Srivastava, James J. Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F. Easton, Jackie Boyle, M. W. Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E. Stevenson, Martin Bobrow, Gillian Turner, Charles E. Schwartz, Jozef Gécz, F. Lucy Raymond, P. Andrew Futreal, Michael R. Stratton - Nature Genetics 2009 被引用: 617

  20. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

    著者: Luigi Boccuto, Maria Lauri, Sara M. Sarasua, Cindy Skinner, Daniela Buccella, Alka Dwivedi, Daniela Orteschi, Julianne S. Collins, Marcella Zollino, Paola Visconti, Barb DuPont, Francesco Danilo Tiziano, Richard J. Schroer, Giovanni Neri, Roger E. Stevenson, Fiorella Gurrieri, Charles E. Schwartz - European Journal of Human Genetics 2012 被引用: 248

  21. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

    著者: Rainer Ruf, Pin‐Xian Xu, Derek Silvius, Edgar A. Otto, Frank Beekmann, Ulla Muerb, Shrawan Kumar, Thomas J. Neuhaus, Markus J. Kemper, Richard M. Raymond, Patrick D. Brophy, Jennifer Berkman, Michael Gattas, V.J. Hyland, Eva-Maria Ruf, Charles E. Schwartz, Eugene H. Chang, Richard J. Smith, Constantine A. Stratakis, Dominique Weil, Christine Petit, Friedhelm Hildebrandt - National Academy of Sciences, Proceedings of the National Academy of Sciences 2004 被引用: 419

  22. Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

    著者: Charles E. Schwartz, Melanie May, Nancy J. Carpenter, R. Curtis Rogers, Judith A. Martin, Martin G. Bialer, Jewell C. Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto J. Echeverri, Herbert A. Lubs, Kytja K. S. Voeller, Richard J. Simensen, Roger E. Stevenson - The American Journal of Human Genetics 2005 被引用: 371

  23. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

    著者: Alexandre S. Cristino, S. M. Williams, Ziarih Hawi, Joon‐Yong An, Mark A. Bellgrove, Charles E. Schwartz, Luciano da Fontoura Costa, Charles Claudianos - Molecular Psychiatry 2013 被引用: 240

  24. Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

    著者: Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara, Sarah Edkins, Jon W. Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Andy Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Susan Holder, Sarah Smithson, Jane A. Hurst, Jill Clayton‐Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F. Easton, Richard Wooster, Martin Bobrow, Anand Srivastava, Roger E. Stevenson, Charles E. Schwartz, Gillian Turner, Jozef Gécz, P. Andrew Futreal, Michael R. Stratton, M. W. Partington - The American Journal of Human Genetics 2007 被引用: 228