Αποτελέσματα αναζήτησης - Laura Vives
- Εμφανίζονται 1 - 20 Αποτελέσματα από 23
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Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms από Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler
Έκδοση 2011Artigo -
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Estimating the human mutation rate using autozygosity in a founder population από Catarina D. Campbell, Jessica X. Chong, Maika Malig, Arthur Ko, Beth L. Dumont, Lide Han, Laura Vives, Brian J. O’Roak, Peter H. Sudmant, Jay Shendure, Mark Abney, Carole Ober, Evan E. Eichler
Έκδοση 2012Artigo -
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Excess of rare, inherited truncating mutations in autism από Niklas Krumm, Tychele N. Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana N. Raja, Bradley P. Coe, Holly A.F. Stessman, Zong-Xiao He, Suzanne M. Leal, Raphael Bernier, Evan E. Eichler
Έκδοση 2015Artigo -
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Recurrent de novo mutations implicate novel genes underlying simplex autism risk από Brian J. O’Roak, Holly A.F. Stessman, Evan A. Boyle, Kali Witherspoon, Beth Martin, C. Lee, Laura Vives, Carl Baker, Joseph B. Hiatt, D. A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler
Έκδοση 2014Artigo -
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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes από Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe, Carl Baker, Laura Vives, Tiffany Vu, Neil Shafer, Raphael Bernier, Giovanni Battista Ferrero, Margherita Silengo, Stephen T. Warren, Carlos S. Moreno, Marco Fichera, Corrado Romano, Wendy H. Raskind, Evan E. Eichler
Έκδοση 2011Artigo -
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Discovery and genotyping of structural variation from long-read haploid genome sequence data από John Huddleston, Mark Chaisson, Karyn Meltz Steinberg, Wes Warren, Kendra Hoekzema, David Gordon, Tina A. Graves-Lindsay, Katherine M. Munson, Zev Kronenberg, Laura Vives, Paul Peluso, Matthew Boitano, Chen-Shin Chin, Jonas Korlach, Richard K. Wilson, Evan E. Eichler
Έκδοση 2016Artigo -
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations από Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoç, Alexandra P MacKenzie, Sarah Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler
Έκδοση 2011Artigo -
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A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk από Francesca Antonacci, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Brian Teague, Mario Ventura, Santhosh Girirajan, Can Alkan, Colin Campbell, Laura Vives, Maika Malig, Jill A. Rosenfeld, Blake C. Ballif, Lisa G. Shaffer, Tina Graves, Richard K. Wilson, David C. Schwartz, Evan E. Eichler
Έκδοση 2010Artigo -
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Structural diversity and African origin of the 17q21.31 inversion polymorphism από Karyn Meltz Steinberg, Francesca Antonacci, Peter H. Sudmant, Jeffrey M. Kidd, Colin Campbell, Laura Vives, Maika Malig, Laura Scheinfeldt, William Beggs, Muntaser E. Ibrahim, Godfrey Lema, Thomas Nyambo, Sabah A. Omar, Jean-Marie Bodo, Alain Froment, Michael P. Donnelly, Kenneth K. Kídd, Sarah A. Tishkoff, Evan E. Eichler
Έκδοση 2012Artigo -
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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability από Francesca Antonacci, Megan Y. Dennis, John Huddleston, Peter H. Sudmant, Karyn Meltz Steinberg, Jill A. Rosenfeld, Mattia Miroballo, Tina Graves, Laura Vives, Maika Malig, Laura Denman, Archana N. Raja, Andrew B. Stuart, Joyce Tang, Brenton P. Munson, Lisa G. Shaffer, Chris T. Amemiya, Richard K. Wilson, Evan E. Eichler
Έκδοση 2014Artigo -
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations από Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoç, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler
Έκδοση 2012Artigo -
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De novo genic mutations among a Chinese autism spectrum disorder cohort από Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Long Min, Janice Lin, Zev Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler
Έκδοση 2016Artigo -
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders από Brian J. O’Roak, Laura Vives, Wenqing Fu, Jarrett D. Egertson, Ian B. Stanaway, Ian G. Phelps, Gemma L. Carvill, Akash Kumar, Choli Lee, Katy Ankenman, Jeff Munson, Joseph B. Hiatt, Emily H. Turner, Roie Levy, Diana R. O’Day, Niklas Krumm, Bradley P. Coe, Beth Martin, Elhanan Borenstein, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Joshua M. Akey, Raphael Bernier, Evan E. Eichler, Jay Shendure
Έκδοση 2012Artigo -
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The contribution of de novo coding mutations to autism spectrum disorder από 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
Έκδοση 2014Artigo -
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders από Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra
Έκδοση 2016Artigo -
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases από 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
Έκδοση 2017Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Medicine
Autism
Genome
Mutation
Psychiatry
Phenotype
Autism spectrum disorder
Exome sequencing
Proband
Exome
Evolutionary biology
Human genome
Population
Allele
Computational biology
Copy-number variation
Demography
Genotype
Internal medicine
Neurodevelopmental disorder
Single-nucleotide polymorphism
Sociology
Candidate gene
CpG site
DNA methylation
Gene expression
Gene family