نتائج البحث - David J. Harris
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Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas حسب Azra H. Ligon, Steven D.P. Moore, Melissa A. Parisi, Matthew E. Mealiffe, David J. Harris, Heather Ferguson, Bradley J. Quade, Cynthia C. Morton
منشور في 2005Artigo -
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DeepPhe: A Natural Language Processing System for Extracting Cancer Phenotypes from Clinical Records حسب Guergana Savova, Eugene Tseytlin, Sean Finan, Melissa Castine, Timothy A. Miller, Olga Medvedeva, David J. Harris, Harry Hochheiser, Chen Lin, Girish Chavan, Rebecca S. Jacobson
منشور في 2017Artigo -
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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield حسب Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki M. Hisama, David W. Brown, Mary P. Mullen, David J. Harris, Joan M. Stoler, Ann Seman, David T. Miller, Qihua Fu, Amy E. Roberts, Yiping Shen
منشور في 2014Artigo -
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate حسب Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton
منشور في 2013Artigo -
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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D حسب Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita Beck, Heidi Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn Earl, Sujatha Jagadeesh, Sarju Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad
منشور في 2012Artigo -
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The complete genome, comparative and functional analysis of Stenotrophomonas maltophilia reveals an organism heavily shielded by drug resistance determinants حسب Lisa Crossman, Virginia C. Gould, J. Maxwell Dow, Georgios S Vernikos, Aki Okazaki, Mohammed Sebaihia, David Saunders, C. Arrowsmith, Tim Carver, Nicholas Peters, Ellen Adlem, Arnaud Kerhornou, Angela Lord, Lee Murphy, Katharine Seeger, Robert Squares, Simon Rutter, Michael A. Quail, Mari-Adele Rajandream, David J. Harris, Carol Churcher, Stephen D. Bentley, Julian Parkhill, Nicholas R. Thomson, Matthew B. Avison
منشور في 2008Artigo -
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements حسب Cinthya Zepeda‐Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J. Harris, Debra Rita, Karen W. Gripp, Jennifer MacKenzie, Andrea Gropman, Brett H. Graham, Ranad Shaheen, Fowzan S. Alkuraya, Campbell K. Brasington, Edward J. Spence, Diane Masser‐Frye, Lynne M. Bird, Erica Spiegel, Rebecca Sparkes, Zehra Ordulu, Michael E. Talkowski, Miguel A. Andrade‐Navarro, Peter N. Robinson, Cynthia C. Morton
منشور في 2017Artigo -
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Increased LIS1 expression affects human and mouse brain development حسب Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov, Feng Zhang, Marjorie Withers, Jill V. Hunter, Talia Levy, Vera Shinder, Daniel A. Peiffer, Kevin L. Gunderson, Marjan M. Nezarati, Vern Ann Shotts, Stephen Amato, Sarah Savage, David J. Harris, D Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L. Beaudet, Sau Wai Cheung, Salvador Martı́nez, James R. Lupski, Orly Reiner
منشور في 2009Artigo -
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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities حسب Michael E. Talkowski, Gilles Maussion, Liam Crapper, Jill A. Rosenfeld, Ian Blumenthal, Carrie Hanscom, Colby Chiang, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Alpha Diallo, Juan Pablo López, Gustavo Turecki, Elizabeth Chen, Carolina Oliveira Gigek, David J. Harris, Va Lip, Yu An, Marta Biagioli, Marcy E. MacDonald, Michael F. Lin, Stephen J. Haggarty, Pamela Sklar, Shaun Purcell, Manolis Kellis, Stuart Schwartz, Lisa G. Shaffer, Marvin R. Natowicz, Yiping Shen, Cynthia C. Morton, James F. Gusella, Carl Ernst
منشور في 2012Artigo -
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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders حسب David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Helen Dickinson, James E. Gentile, David J. Harris, Vishwajit Hegde, Rachel J. Hundley, Omar Khwaja, Sanjeev V. Kothare, Christina Luedke, Ramzi Nasir, Annapurna Poduri, Konasale M. Prasad, Peter Raffalli, Antoine Reinhard, Stephen Smith, Magdi M. Sobeih, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Joseph V. Thakuria, Robert R. Wolff, RAMIL I. YUSUPOV, James F. Gusella, Mark J. Daly, B-L Wu
منشور في 2008Artigo -
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Opportunities and obstacles for deep learning in biology and medicine حسب Travers Ching, Daniel Himmelstein, Brett K. Beaulieu‐Jones, Alexandr A. Kalinin, T. Brian, Gregory P. Way, Enrico Ferrero, Paul‐Michael Agapow, Michael Zietz, Michael M. Hoffman, Wei Xie, Gail Rosen, Benjamin J. Lengerich, Johnny Israeli, Jack Lanchantin, Stephen Woloszynek, Anne E. Carpenter, Avanti Shrikumar, Jinbo Xu, Evan M. Cofer, Christopher A. Lavender, Srinivas C. Turaga, Amr M. Alexandari, Zhiyong Lu, David J. Harris, David DeCaprio, Yanjun Qi, Anshul Kundaje, Yifan Peng, Laura K. Wiley, Marwin Segler, Simina M. Boca, S. Joshua Swamidass, Austin Huang, Anthony Gitter, Casey S. Greene
منشور في 2018Revisão -
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Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project حسب Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, G.A.P. Bruns, Diana Donovan, R.E. Eisenman, Yanli Fan, Chantal G. Farra, Heather Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. Leach, Emma Lemyre, Janine Lewis, Azra H. Ligon, Lu W, Richard L. Maas, Marcy E. MacDonald, Steven D.P. Moore, Roxanna E. Peters, Bradley J. Quade, Fabiola Quintero‐Rivera, Irfan Saadi, Yiping Shen, Jay Shendure, Robin E. Williamson, Cynthia C. Morton
منشور في 2008Artigo -
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies حسب Hyung‐Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas M. Ruderfer, Ji‐Hyun Lee, Caron D. Glotzbach, Kyungsoo Ha, Susanne Kjærgaard, Alex V. Levin, Bernd Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans‐Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol‐Hee Kim, James F. Gusella
منشور في 2012Artigo -
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries حسب Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella
منشور في 2012Artigo -
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Copy number variation plays an important role in clinical epilepsy حسب Heather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Z. Ekşioğlu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev V. Kothare, Omar Khwaja, Jonathan O. Lipton, Tobias Loddenkemper, Jennifer A. Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy E. Roberts, Eugene Roe, Caitlin K. Rollins, Mustafa Şahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Alcy Torres, Peter T. Tsai, David K. Urion, Laura Weissman, Robert R. Wolff, Bai‐Lin Wu, David T. Miller, Annapurna Poduri
منشور في 2014Artigo -
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Physical distancing, face masks, and eye protection to prevent person-to-person transmission of SARS-CoV-2 and COVID-19: a systematic review and meta-analysis حسب Derek K. Chu, Elie A Akl, Stephanie Duda, Karla Solo, Sally Yaacoub, Holger J. Schünemann, Derek K. Chu, Elie A. Akl, Amena El‐Harakeh, Antonio Bognanni, Tamara Lotfi, Mark Loeb, Anisa Hajizadeh, Anna Bąk, Ariel Izcovich, Carlos A. Cuello‐García, Chen Chen, David J. Harris, E Borowiack, Fatimah Chamseddine, Finn Schünemann, Gian Paolo Morgano, Giovanna E.U. Muti Schünemann, Guang Chen, Hong Zhao, Ignacio Neumann, Jeffrey Shi Kai Chan, Joanne Khabsa, Layal Hneiny, Leila Harrison, Maureen Smith, Nesrine Rizk, Paolo Giorgi Rossi, Pierre Abihanna, Rayane El-Khoury, Rosa Stalteri, Tejan Baldeh, Thomas Piggott, Yuan Zhang, Zahra Saad, Assem M. Khamis, Marge Reinap, Stephanie Duda, Karla Solo, Sally Yaacoub, Holger J. Schünemann
منشور في 2020Revisão
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Genome
Medicine
Computational biology
Computer science
Copy-number variation
Phenotype
Bioinformatics
Epilepsy
Gene expression
Internal medicine
Psychiatry
Anatomy
Artificial intelligence
Autism
Breakpoint
Cancer
Chromosomal translocation
Chromosome
Data mining
Data science
Electrical engineering
Engineering
Evolutionary biology
Gene duplication
Genetic testing
Intellectual disability
Neuroscience