检索结果 - Ivan Iossifov
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Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction 由 Xi Shi, Congyi Lu, Alba Corman, Alexandria Nikish, Yang Zhou, R. Platt, Ivan Iossifov, Feng Zhang, Jen Q. Pan, Neville E. Sanjana
出版 2023Artigo -
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Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders 由 Dan Levy, Michael Ronemus, Boris Yamrom, Yoonha Lee, Anthony Leotta, Jude Kendall, Steven C. Marks, B. Lakshmi, Deepa Pai, Kenny Ye, Andreas Buja, Abba Μ. Krieger, Seungtai Yoon, Jennifer Troge, Linda Rodgers, Ivan Iossifov, Michael Wigler
出版 2011Artigo -
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Analysis of <i>Drosophila</i> Segmentation Network Identifies a JNK Pathway Factor Overexpressed in Kidney Cancer 由 Jiang Liu, Murad Ghanim, Lei Xue, Christopher D. Brown, Ivan Iossifov, César Angeletti, Sujun Hua, Nicolas Nègre, Michael Ludwig, Thomas Stricker, Hikmat Al‐Ahmadie, Maria Tretiakova, Robert L. Camp, Montse Perera-Alberto, David L. Rimm, Tian Xu, Andrey Rzhetsky, K White
出版 2009Artigo -
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Indel variant analysis of short-read sequencing data with Scalpel 由 Han Fang, Ewa A. Bergmann, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason O'Rawe, Yiyang Wu, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J. Lyon, Michael Wigler, Michael C. Schatz, Giuseppe Narzisi
出版 2016Artigo -
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA 由 Tychele N. Turner, Fereydoun Hormozdiari, Michael H. Duyzend, Sarah A. McClymont, Paul W. Hook, Ivan Iossifov, Archana N. Raja, Carl Baker, Kendra Hoekzema, Holly A.F. Stessman, Michael C. Zody, Bradley J. Nelson, John Huddleston, Richard Sandstrom, Joshua D. Smith, D. Hanna, James M. Swanson, Elaine M. Faustman, Michael J. Bamshad, J Stamatoyannopoulos, Deborah A. Nickerson, Andrew S. McCallion, Robert B. Darnell, Evan E. Eichler
出版 2015Artigo -
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Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data 由 Joseph Glessner, Alexander G. Bick, Kaoru Ito, Jason Homsy, Laura Rodriguez‐Murillo, Menachem Fromer, Erica Mazaika, Badri N. Vardarajan, Michael J. Italia, Jeremy Leipzig, Steven R. DePalma, Ryan Golhar, Stephan Sanders, Boris Yamrom, Michael Ronemus, Ivan Iossifov, A. Jeremy Willsey, Matthew W. State, Jonathan R. Kaltman, Peter S. White, Yufeng Shen, Dorothy Warburton, Martina Brueckner, Christine E. Seidman, Elizabeth Goldmuntz, Bruce D. Gelb, Richard P. Lifton, Jonathan G. Seidman, Hákon Hákonarson, Wendy K. Chung
出版 2014Artigo -
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De Novo Gene Disruptions in Children on the Autistic Spectrum 由 Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoonha Lee, Giuseppe Narzisi, Anthony Leotta, Jude Kendall, Ewa Grabowska, Beicong Ma, Steven C. Marks, Linda Rodgers, Asya Stepansky, Jennifer Troge, Peter Andrews, Mitchell A. Bekritsky, Kith Pradhan, Elena Ghiban, Melissa Kramer, Jennifer Parla, Ryan Demeter, Lucinda Fulton, Robert S. Fulton, Vincent Magrini, Kenny Ye, Jennifer C. Darnell, Robert B. Darnell, Elaine R. Mardis, Richard K. Wilson, Michael C. Schatz, W. Richard McCombie, Michael Wigler
出版 2012Artigo -
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The contribution of de novo coding mutations to autism spectrum disorder 由 Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A.F. Stessman, Kali Witherspoon, Laura Vives, Karynne Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis Eduardo González, Jeffrey D. Mandell, Shrikant Mane, Michael T. Murtha, Catherine Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoonha Lee, Ewa Grabowska, Ertuğrul Dalkıç, Zihua Wang, Steven C. Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler
出版 2014Artigo -
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies 由 Jason Homsy, Samir Zaidi, Yufeng Shen, James S. Ware, Kaitlin E. Samocha, Konrad J. Karczewski, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Anna Giardini, George A. Porter, Richard Kim, Kaya Bilgüvar, Francesc López‐Giráldez, Irina Tikhonova, Shrikant Mane, Angela Romano-Adesman, Hongjian Qi, Badri N. Vardarajan, Lijiang Ma, Mark J. Daly, Amy E. Roberts, Mark W. Russell, Seema Mital, Jane W. Newburger, J. William Gaynor, Roger E. Breitbart, Ivan Iossifov, Michael Ronemus, Stephan Sanders, Jonathan R. Kaltman, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Elizabeth Goldmuntz, Richard P. Lifton, Christine E. Seidman, Wendy K. Chung
出版 2015Artigo -
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms 由 Sandra Jansen, Ilse van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia, Zeynep Coban‐Akdemir, Anke Van Dijck, Diane Doummar, Albertien M. van Eerde, Anthonie J. van Essen, Koen L.I. van Gassen, María J. Guillen Sacoto, Mieke M. van Haelst, Ivan Iossifov, Jessica L. Jackson, Elizabeth Judd, Charu Kaiwar, Boris Keren, Eric W. Klee, Jolien S. Klein Wassink‐Ruiter, Marije Meuwissen, Kristin G. Monaghan, Sonja A. de Munnik, Caroline Nava, Charlotte W. Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R. Sanders, Rhonda E. Schnur, Eric J. Smeets, Alexander P.A. Stegmann, Asbjørg Stray‐Pedersen, David A. Sweetser, Paulien A. Terhal, Kristian Tveten, Grace E. VanNoy, Petra F. de Vries, Jessica L. Waxler, Marcia Willing, Rolph Pfundt, Joris A. Veltman, R. Frank Kooy, Lisenka E.L.M. Vissers, Bert B.A. de Vries
出版 2019Artigo
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Biology
Gene
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Exome sequencing
Autism
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Single-nucleotide polymorphism
Computer science
Developmental psychology
Psychology
Copy-number variation
Neuroscience
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Autism spectrum disorder
Indel
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Exon
Genetic variation
INDEL Mutation
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