Risultati della ricerca - Laura Vives

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  1. 1
    Bivalent domains enforce transcriptional memory of DNA methylated genes in cancer cells

    Bivalent domains enforce transcriptional memory of DNA methylated genes in cancer cells di Jairo Rodríguez, Mar Muñoz, Laura Vives, Costas G. Frangou, Mark Groudine, Miguel A. Peinado

    Pubblicazione 2008
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  2. 2
    Genome-wide tracking of unmethylated DNA Alu repeats in normal and cancer cells

    Genome-wide tracking of unmethylated DNA Alu repeats in normal and cancer cells di Jairo Rodríguez, Laura Vives, Mireia Jordà, Cristina Morales, Mar Muñoz, Elisenda Vendrell, Miguel A. Peinado

    Pubblicazione 2007
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  3. 3
    Transmission Disequilibrium of Small CNVs in Simplex Autism

    Transmission Disequilibrium of Small CNVs in Simplex Autism di Niklas Krumm, Brian J. O’Roak, Emre Karakoç, Kiana Mohajeri, Ben Nelson, Laura Vives, Sébastien Jacquemont, Jeff Munson, R. Bernier, Evan E. Eichler

    Pubblicazione 2013
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  4. 4
    Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

    Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms di 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

    Pubblicazione 2011
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  5. 5
    Detection of structural variants and indels within exome data

    Detection of structural variants and indels within exome data di Emre Karakoç, Can Alkan, Brian J. O’Roak, Megan Y. Dennis, Laura Vives, Kenneth M. K. Mark, Mark J. Rieder, Debbie A. Nickerson, Evan E. Eichler

    Pubblicazione 2011
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  6. 6
    Estimating the human mutation rate using autozygosity in a founder population

    Estimating the human mutation rate using autozygosity in a founder population di 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

    Pubblicazione 2012
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  7. 7
    Excess of rare, inherited truncating mutations in autism

    Excess of rare, inherited truncating mutations in autism di 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

    Pubblicazione 2015
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  8. 8
    Recurrent de novo mutations implicate novel genes underlying simplex autism risk

    Recurrent de novo mutations implicate novel genes underlying simplex autism risk di 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

    Pubblicazione 2014
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  9. 9
    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes di 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

    Pubblicazione 2011
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  10. 10
    Discovery and genotyping of structural variation from long-read haploid genome sequence data

    Discovery and genotyping of structural variation from long-read haploid genome sequence data di 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

    Pubblicazione 2016
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  11. 11
    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations di 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

    Pubblicazione 2011
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  12. 12
    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk di 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

    Pubblicazione 2010
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  13. 13
    Structural diversity and African origin of the 17q21.31 inversion polymorphism

    Structural diversity and African origin of the 17q21.31 inversion polymorphism di 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

    Pubblicazione 2012
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  14. 14
    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability di 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

    Pubblicazione 2014
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  15. 15
    Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

    Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations di 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

    Pubblicazione 2012
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  16. 16
    De novo genic mutations among a Chinese autism spectrum disorder cohort

    De novo genic mutations among a Chinese autism spectrum disorder cohort di 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

    Pubblicazione 2016
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  17. 17
    Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

    Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders di 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

    Pubblicazione 2012
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  18. 18
    The contribution of de novo coding mutations to autism spectrum disorder

    The contribution of de novo coding mutations to autism spectrum disorder di 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

    Pubblicazione 2014
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  19. 19
    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders di 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

    Pubblicazione 2016
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  20. 20
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases di 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

    Pubblicazione 2017
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