Beverly S. Emanuel
1980–2024 年に発表
- 別表記
- Beverly S Emanuel
- 109
- 論文数
- 18,239
- 被引用数
- 83
- h 指数
- 107
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology57.7%
- Medicine28.7%
- Neuroscience7.8%
- Immunology and Microbiology2.9%
- Agricultural and Biological Sciences0.9%
- Psychology0.5%
- その他1.5%
トピック
- Congenital heart defects research9.7%
- Genomic variations and chromosomal abnormalities6.4%
- Congenital Heart Disease Studies4%
- Genetics and Neurodevelopmental Disorders2.9%
- Genomics and Rare Diseases2%
- Chromosomal and Genetic Variations1.8%
- その他73.2%
共著者
- Donna M. McDonald‐McGinn46
- Elaine H. Zackai46
- Deborah A. Driscoll22
- Raquel E. Gur12
- Marcia L. Budarf11
- Elizabeth Goldmuntz10
- Hiroki Kurahashi10
- Ann Swillen9
- Joris Vermeesch9
- Kathleen E. Sullivan9
- T. Blaine Crowley9
- Wendy R. Kates9
- Tamim H. Shaikh8
- Anne S. Bassett7
- Bernice E. Morrow7
- Cynthia Solot7
- Edward Moss7
- Jacob Vorstman7
- Marsha Gerdes7
- Thérèse van Amelsvoort7
- Abbas F. Jawad6
- April M. Hacker6
- Carlo M. Croce6
- Carrie E. Bearden6
全論文
- 22q11.2 deletion syndrome
著者: Donna M. McDonald‐McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris Vermeesch, Bernice E. Morrow, Peter Scambler, Anne S. Bassett - Nature Reviews Disease Primers 2015 被引用: 2,238
- Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
著者: R. W. Davies, Ania Fiksinski, Elemi Breetvelt, Nigel Williams, Stephen R. Hooper, Thomas Monfeuga, Anne S. Bassett, Michael J. Owen, Raquel E. Gur, Bernice E. Morrow, Donna M. McDonald‐McGinn, Ann Swillen, Eva W.C. Chow, Marianne B. M. van den Bree, Beverly S. Emanuel, Joris Vermeesch, Thérèse van Amelsvoort, Celso Arango, Marco Armando, Linda Campbell, Joseph F. Cubells, Stéphan Eliez, Sixto García‐Miñáur, Doron Gothelf, Wendy R. Kates, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Nicole Philip, Gabriela M. Repetto, Vandana Shashi, Tony J. Simon, Damián Heine‐Suñer, Stefano Vicari, Stephen W. Scherer, Carrie E. Bearden, Jacob Vorstman - Nature Medicine 2020 被引用: 149
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from theENIGMAworking groups onCNVs
著者: Ida E. Sønderby, Christopher R. K. Ching, Sophia I. Thomopoulos, Dennis van der Meer, Daqiang Sun, Julio E. Villalón‐Reina, Ingrid Agartz, Katrin Amunts, Celso Arango, Nicola J. Armstrong, Rosa Ayesa‐Arriola, Geor Bakker, Anne S. Bassett, Dorret I. Boomsma, Robin Bülow, Nancy J. Butcher, Vince D. Calhoun, Svenja Caspers, Eva W.C. Chow, Sven Cichon, Simone Ciufolini, Michael Craig, Benedicto Crespo‐Facorro, Adam Cunningham, Anders M. Dale, Paola Dazzan, Greig I. de Zubicaray, Srdjan Djurovic, Joanne Doherty, Gary Donohoe, Bogdan Draganski, Courtney A. Durdle, Stefan Ehrlich, Beverly S. Emanuel, Thomas Espeseth, Simon E. Fisher, Tian Ge, David C. Glahn, Hans J. Grabe, Raquel E. Gur, Boris A. Gutman, Jan Haavik, Asta K. Håberg, Laura A. Hansen, Ryota Hashimoto, Derrek P. Hibar, Avram J. Holmes, Jouke‐Jan Hottenga, Hilleke E. Hulshoff Pol, Maria Jalbrzikowski, Emma E. M. Knowles, Leila Kushan, David E.J. Linden, Jingyu Liu, Astri J. Lundervold, Sandra Martin‐Brevet, Kenia Martínez, Karen A. Mather, Samuel R. Mathias, Donna M. McDonald‐McGinn, Allan F. McRae, Sarah E. Medland, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sánchez, Clara Moreau, Thomas W. Mühleisen, Tomáš Paus, Zdenka Pausová, Carlos Alberto Vanegas Prieto, Anjanibhargavi Ragothaman, Céline S. Reinbold, Tiago Reis Marques, Gabriela M. Repetto, Alexandre Reymond, David R. Roalf, Borja Rodríguez‐Herreros, James Rucker, Perminder S. Sachdev, James E. Schmitt, Peter R. Schofield, Ana Isabel Silva, Hreinn Stefánsson, Dan J. Stein, Christian K. Tamnes, Diana Tordesillas‐Gutiérrez, Magnús Ö. Úlfarsson, Ariana Vajdi, Dennis van ‘t Ent, Marianne B. M. van den Bree, Evangelos Vassos, Javier Vázquez-Bourgón, Fidel Vila‐Rodriguez, G. Bragi Walters, Wei Wen, Lars T. Westlye, Katharina Wittfeld, Elaine H. Zackai, Kári Stefánsson, Sébastien Jacquemont ほか 5 名 - Human Brain Mapping 2021 被引用: 73
- Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
著者: Daqiang Sun, Christopher R. K. Ching, Amy Lin, Jennifer K. Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Debel Hansen, Julio E. Villalón‐Reina, Xiaoping Qu, Rachel K. Jonas, Thérèse van Amelsvoort, Geor Bakker, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Linda Campbell, Kathryn McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Michael Craig, Jacob Vorstman, Ania Fiksinski, Sanne Koops, Kosha Ruparel, David R. Roalf, Raquel E. Gur, J. Eric Schmitt, Tony J. Simon, Naomi J. Goodrich‐Hunsaker, Courtney A. Durdle, Anne S. Bassett, Eva W.C. Chow, Nancy J. Butcher, Fidel Vila‐Rodriguez, Joanne Doherty, Adam Cunningham, Marianne B. M. van den Bree, David E.J. Linden, Hayley Moss, Michael J. Owen, Kieran C. Murphy, Donna M. McDonald‐McGinn, Beverly S. Emanuel, Theo G.M. van Erp, Jessica A. Turner, Paul M. Thompson, Carrie E. Bearden - Molecular Psychiatry 2018 被引用: 198
- Molecular genetics of 22q11.2 deletion syndrome
著者: Bernice E. Morrow, Donna M. McDonald‐McGinn, Beverly S. Emanuel, Joris Vermeesch, Peter Scambler - American Journal of Medical Genetics Part A 2018 被引用: 149
- Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia
著者: Jianping Li, Oanh Tran, T. Blaine Crowley, Tyler M. Moore, Elaine H. Zackai, Beverly S. Emanuel, Donna M. McDonald‐McGinn, Raquel E. Gur, Douglas C. Wallace, Stewart A. Anderson - JAMA Psychiatry 2021 被引用: 62
- Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
著者: Naomi Galili, Richard J. Davis, William J. Fredericks, Sunil Mukhopadhyay, Frank J. Rauscher, Beverly S. Emanuel, G Rovera, Frederic G. Barr - Nature Genetics 1993 被引用: 902
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
著者: Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Levitt Katz, Maria R. Mascarenhas, Vincent F. Deeney, René M. Castelein, Karen B. Zur, Lisa M. Elden, Staci Kallish, Thomas F. Kolon, Sarah Hopkins, Madeline Chadehumbe, Michele P. Lambert, Brian J. Forbes, Julie S. Moldenhauer, Erica Schindewolf, Cynthia Solot, Edward Moss, Raquel E. Gur, Kathleen E. Sullivan, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald‐McGinn - American Journal of Medical Genetics Part A 2018 被引用: 180
- Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness
著者: Christopher R. K. Ching, Boris A. Gutman, Daqiang Sun, Julio E. Villalón‐Reina, Anjanibhargavi Ragothaman, Dmitry Isaev, Artemis Zavaliangos‐Petropulu, Amy Lin, Rachel K. Jonas, Leila Kushan, Laura Pacheco-Hansen, Ariana Vajdi, Jennifer K. Forsyth, Maria Jalbrzikowski, Geor Bakker, Thérèse van Amelsvoort, Kevin M. Antshel, Wanda Fremont, Wendy R. Kates, Linda Campbell, Kathryn McCabe, Michael Craig, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Kieran C. Murphy, Ania Fiksinski, Sanne Koops, Jacob Vorstman, T. Blaine Crowley, Beverly S. Emanuel, Raquel E. Gur, Donna M. McDonald‐McGinn, David R. Roalf, Kosha Ruparel, J. Eric Schmitt, Elaine H. Zackai, Courtney A. Durdle, Naomi J. Goodrich‐Hunsaker, Tony J. Simon, Anne S. Bassett, Nancy J. Butcher, Eva W.C. Chow, Fidel Vila‐Rodriguez, Adam Cunningham, Joanne Doherty, David E.J. Linden, Hayley Moss, Michael J. Owen, Marianne B. M. van den Bree, Nicolás Crossley, Gabriela M. Repetto, Paul M. Thompson, Carrie E. Bearden - American Journal of Psychiatry 2020 被引用: 87
- 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases
著者: Shabnam Peyvandi, Philip J. Lupo, Jennifer Garbarini, Stacy Woyciechowski, Sharon Edman, Beverly S. Emanuel, Laura E. Mitchell, Elizabeth Goldmuntz - Pediatric Cardiology 2013 被引用: 119
- Frequency of 22q11 deletions in patients with conotruncal defects
著者: Elizabeth Goldmuntz, Bernard J. Clark, Laura E. Mitchell, Abbas F. Jawad, Bettina F. Cuneo, Lori A. Reed, Donna M. McDonald‐McGinn, Peggy Chien, Jennifer J. Feuer, Elaine H. Zackai, Beverly S. Emanuel, Deborah A. Driscoll - Journal of the American College of Cardiology 1998 被引用: 589
- Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
著者: Frederic G. Barr, Naomi Galili, John Holick, Jaclyn A. Biegel, G Rovera, Beverly S. Emanuel - Nature Genetics 1993 被引用: 561
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
著者: Yingjie Zhao, Alexander Diacou, H. Richard Johnston, Fadi I. Musfee, Donna M. McDonald‐McGinn, Daniel E. McGinn, T. Blaine Crowley, Gabriela M. Repetto, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Wendy R. Kates, M. Cristina Digilio, Marta Unolt, Bruno Marino, Maria Pontillo, Marco Armando, Fabio Di Fabio, Stefano Vicari, Marianne B. M. van den Bree, Hayley Moss, Michael J. Owen, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Kelly Schoch, Vandana Shashi, Flora Tassone, Tony J. Simon, Robert J. Shprintzen, Linda Campbell, Nicole Philip, Damián Heine‐Suñer, Sixto García‐Miñáur, Luis C. Fernández, Stylianos E. Antonarakis, Massimo Biondi, Erik Boot, Elemi Breetvelt, Tiffany Busa, Nancy J. Butcher, Antonino Buzzanca, Miri Carmel, Isabelle Cleynen, David J. Cutler, Bruno Dallapiccola, María Angeles de la Fuente Sanches, Michael P. Epstein, Rens Evers, Luis C. Fernández, Rosemarie Fritsch, Fernando García Algas, Tingwei Guo, Raquel E. Gur, Matthew S. Hestand, Tracy Heung, Stephen R. Hooper, Andrea Jin, Leila Kushan, Alejandra Laorden-Nieto, Guido Maria Lattanzi, Christian Marshall, Kathryn McCabe, Elena Michaelovsky, Claudia Ornstein, Candice K. Silversides, Oanh Tran, Esther D.A. van Duin, Elfi Vergaelen, Steve T. Warren, Ronnie Weinberger, Abraham Weizman, Zhengdong Zhang, Michael E. Zwick, Carrie E. Bearden, Claudia Vingerhoets, Thérèse van Amelsvoort, Stéphan Eliez, Maude Schneider, Jacob Vorstman, Doron Gothelf, Elaine H. Zackai, A. J. Agopian, Raquel E. Gur, Anne S. Bassett, Beverly S. Emanuel, Elizabeth Goldmuntz, Laura E. Mitchell, Tao Wang, Bernice E. Morrow - The American Journal of Human Genetics 2019 被引用: 74
- Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated
著者: Sunny X. Tang, James Yi, Monica E. Calkins, Daneen Whinna, Christian G. Kohler, Margaret C. Souders, Donna M. McDonald‐McGinn, Elaine H. Zackai, Beverly S. Emanuel, Ruben C. Gur, Raquel E. Gur, R. E. Gur, R. E. Gur - Psychological Medicine 2013 被引用: 155
- 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening
著者: Tara Wenger, Judith S. Miller, Lauren M. DePolo, Ashley de Marchena, Caitlin C. Clements, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald‐McGinn, Robert T. Schultz - Molecular Autism 2016 被引用: 100
- Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study
著者: Julio E. Villalón‐Reina, Kenia Martínez, Xiaoping Qu, Christopher R. K. Ching, Talia M. Nir, Deydeep Kothapalli, Conor K. Corbin, Daqiang Sun, Amy Lin, Jennifer K. Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Debel Hansen, Rachel K. Jonas, Thérèse van Amelsvoort, Geor Bakker, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Linda Campbell, Kathryn McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Michael Craig, Beverly S. Emanuel, Donna M. McDonald‐McGinn, Jacob Vorstman, Ania Fiksinski, Sanne Koops, Kosha Ruparel, David R. Roalf, Raquel E. Gur, J. Eric Schmitt, Tony J. Simon, Naomi J. Goodrich‐Hunsaker, Courtney A. Durdle, Joanne Doherty, Adam Cunningham, Marianne B. M. van den Bree, David E.J. Linden, Michael J. Owen, Hayley Moss, Sinéad Kelly, Gary Donohoe, Kieran C. Murphy, Celso Arango, Neda Jahanshad, Paul M. Thompson, Carrie E. Bearden - Molecular Psychiatry 2019 被引用: 79
- A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome
著者: J. Eric Schmitt, John J. DeBevits, David R. Roalf, Kosha Ruparel, Robert S. Gallagher, Ruben C. Gur, Aaron Alexander‐Bloch, Tae-Yeon Eom, Shahinur Alam, Jeffrey A. Steinberg, Walter J. Akers, Khaled Khairy, T. Blaine Crowley, Beverly S. Emanuel, Stanislav S. Zakharenko, Donna M. McDonald‐McGinn, Raquel E. Gur - Biological Psychiatry Cognitive Neuroscience and Neuroimaging 2021 被引用: 17
- Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome
著者: Sarah E. Fine, Alison Weissman, Marsha Gerdes, Jennifer Pinto‐Martin, Elaine H. Zackai, Donna M. McDonald‐McGinn, Beverly S. Emanuel - Journal of Autism and Developmental Disorders 2005 被引用: 215
- MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
著者: Jacob Vorstman, G R Jalali, Eric Rappaport, April M. Hacker, Clare L. Scott, Beverly S. Emanuel - Human Mutation 2006 被引用: 140
- Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities
著者: Raquel E. Gur, James Yi, Donna M. McDonald‐McGinn, Sunny X. Tang, Monica E. Calkins, Daneen Whinna, Margaret C. Souders, Adam Savitt, Elaine H. Zackai, P. J. Moberg, Beverly S. Emanuel, Ruben C. Gur, Ruben C. Gur, Ruben C. Gur - Molecular Psychiatry 2014 被引用: 104
- MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data
著者: Larry N. Singh, Brian Ennis, Bryn Loneragan, Noah L. Tsao, M. Isabel G. Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A. Trounce, Yuankun Zhu, Prasanth Potluri, Regeneron Genetics Center, Beverly S. Emanuel, Daniel J. Rader, Zoltan Arany, Scott M. Damrauer, Adam C. Resnick, Stewart A. Anderson, Douglas C. Wallace - PLoS Computational Biology, PLoS Comput. Biol. 2021 被引用: 31
- A normative chart for cognitive development in a genetically selected population
著者: Ania Fiksinski, Carrie E. Bearden, Anne S. Bassett, René S. Kahn, Janneke Zinkstok, Stephen R. Hooper, Wanda Tempelaar, Donna M. McDonald‐McGinn, Ann Swillen, Beverly S. Emanuel, Bernice E. Morrow, Raquel E. Gur, Eva W.C. Chow, Marianne B. M. van den Bree, Joris Vermeesch, Stephen T. Warren, Michael J. Owen, Thérèse van Amelsvoort, Stéphan Eliez, Doron Gothelf, Celso Arango, Wendy R. Kates, Tony Simon, Kieran C. Murphy, Gabriela M. Repetto, Damián Heine‐Suñer, Stefano Vicari, Joseph F. Cubells, Marco Armando, Nicole Philip, Linda Campbell, Sixto García‐Miñáur, Maude Schneider, Vandana Shashi, Jacob Vorstman, Elemi Breetvelt - Neuropsychopharmacology 2021 被引用: 24
- VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
著者: Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, Sandra Jansen, Jian Wang, Sunit Maity, Paige L. Kneer, Maren von der Ohe, Ann Swillen, Christa Maes, Marc Gewillig, Daniël G. M. Molin, Peter W. Hellings, Thurid Boetel, Maartin Haardt, Veerle Compernolle, Mieke Dewerchin, Stéphane Plaisance, Robert Vlietinck, Beverly S. Emanuel, Adriana C. Gittenberger–de Groot, Peter Scambler, Bernice E. Morrow, Deborah A. Driscol, Lieve Moons, Camila V. Esguerra, Geert Carmeliet, Annett Behn-Krappa, Koenraad Devriendt, D Collen, Simon J. Conway, Peter Carmeliet - Nature Medicine 2003 被引用: 310
- Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome
著者: Jan O. Korbel, Alexander E. Urban, Fabian Grubert, Jiang Du, Thomas Royce, Peter Starr, Guoneng Zhong, Beverly S. Emanuel, Sherman M. Weissman, M Snyder, Mark Gerstein - National Academy of Sciences, Proceedings of the National Academy of Sciences 2007 被引用: 89
