Rezultati pretrage - Zhancheng Zhang

  • Prikaz rezultata 1 – 8 od 8
Detaljiziraj rezultate
  1. 1
    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders od Tychele N. Turner, Amy B. Wilfert, Trygve E. Bakken, Raphael Bernier, Micah Pepper, Zhancheng Zhang, Rebecca I. Torene, Kyle Retterer, Evan E. Eichler

    Izdano 2019
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  2. 2
    Mobile element insertion detection in 89,874 clinical exomes

    Mobile element insertion detection in 89,874 clinical exomes od Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley, Erin Beaver, Lorne A. Clarke, Sarah Neil‐Sztramko, Jagdeep S. Walia, Danna Hull, Jane Juusola, Kyle Retterer

    Izdano 2020
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  3. 3
    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases od Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth M. Heise, Karen Chong, Richard Sidlow, Lauren O’Grady, Inderneel Sahai, Christa Lese Martin, David H. Ledbetter, Scott M. Myers, Kevin J. Mitchell, Kyle Retterer

    Izdano 2023
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  4. 4
    Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity

    Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity od Lingyun Song, Zhancheng Zhang, Linda L. Grasfeder, Alan P. Boyle, Paul G. Giresi, Bum-Kyu Lee, Nathan C. Sheffield, Stefan Gräf, Mikael Huss, Damian Keefe, Zheng Liu, Darin London, Ryan M. McDaniell, Yoichiro Shibata, Kimberly A. Showers, Jeremy M. Simon, Teresa R. Vales, Tianyuan Wang, Deborah R. Winter, Zhuzhu Zhang, Neil D. Clarke, Ewan Birney, Vishwanath R. Iyer, Gregory E. Crawford, Jason D. Lieb, Terrence S. Furey

    Izdano 2011
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  5. 5
    Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

    Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome od Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlène Rio, Nathalie Boddaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James R. Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnès Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn

    Izdano 2017
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  6. 6
    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders od Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E.L.M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David Fitzpatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer

    Izdano 2019
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  7. 7
    The accessible chromatin landscape of the human genome

    The accessible chromatin landscape of the human genome od Robert E. Thurman, Eric Rynes, Richard Humbert, Jeff Vierstra, Matthew T. Maurano, Eric Haugen, Nathan C. Sheffield, Andrew B. Stergachis, Hao Wang, Benjamin Vernot, Kavita S. Garg, Sam John, Richard Sandstrom, Daniel Bates, Lisa Boatman, Theresa K. Canfield, Morgan Diegel, Douglas Dunn, Abigail K. Ebersol, Tristan Frum, Erika Giste, Audra Johnson, Ericka M. Johnson, Tanya Kutyavin, Bryan R. Lajoie, Bum-Kyu Lee, Kristen Lee, Darin London, Dimitra M. Lotakis, Shane Neph, Fidencio Neri, Éric Nguyen, Hongzhu Qu, Alex Reynolds, Vaughn Roach, Alexias Safi, Minerva E. Sanchez, Amartya Sanyal, Anthony Shafer, Jeremy M. Simon, Lingyun Song, Shinny Vong, Molly Weaver, Yongqi Yan, Zhancheng Zhang, Zhuzhu Zhang, Boris Lenhard, Muneesh Tewari, Michael O. Dorschner, R. Scott Hansen, Patrick A. Navas, George Stamatoyannopoulos, Vishwanath R. Iyer, Jason D. Lieb, Shamil Sunyaev, Joshua M. Akey, Peter J. Sabo, Rajinder Kaul, Terrence S. Furey, Job Dekker, Gregory E. Crawford, J Stamatoyannopoulos

    Izdano 2012
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  8. 8
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data od Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Izdano 2020
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