Search Results - Weizhen Ji

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  1. 1
    Hypomethylation of pericentromeric DNA in breast adenocarcinomas

    Hypomethylation of pericentromeric DNA in breast adenocarcinomas by Ajita Narayan, Weizhen Ji, Xian-Yang Zhang, Aizen J. Marrogi, Jeremy R. Graff, Stephen B. Baylin, Melanie Ehrlich

    Published 1998
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  2. 2
    De novo damaging variants associated with congenital heart diseases contribute to the connectome

    De novo damaging variants associated with congenital heart diseases contribute to the connectome by Weizhen Ji, Dina Ferdman, Joshua A. Copel, Dustin Scheinost, Veronika Shabanova, Martina Brueckner, Mustafa K. Khokha, Laura R. Ment

    Published 2020
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  3. 3
    Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects

    Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects by Hideki Nomura, Alberto Turco, York Pei, Luba Kalaydjieva, Tina Schiavello, Stanislawa Weremowicz, Weizhen Ji, Cynthia C. Morton, Miriam H. Meisler, Stephen T. Reeders, Jing Zhou

    Published 1998
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  4. 4
    Rare independent mutations in renal salt handling genes contribute to blood pressure variation

    Rare independent mutations in renal salt handling genes contribute to blood pressure variation by Weizhen Ji, Jia Nee Foo, Brian J. O’Roak, Hongyu Zhao, Martin G. Larson, David B. Simon, Christopher Newton‐Cheh, Matthew W. State, Daniel Levy, Richard P. Lifton

    Published 2008
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  5. 5
    Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

    Genetic diagnosis by whole exome capture and massively parallel DNA sequencing by Murim Choi, Ute I. Scholl, Weizhen Ji, Tiewen Liu, Irina R. Tikhonova, Paul Zumbo, Ahmet Nayır, Ayşı̇n Bakkaloğlu, Seza Özen, Sami A. Sanjad, Carol Nelson‐Williams, Anita Farhi, Shrikant Mane, Richard P. Lifton

    Published 2009
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  6. 6
    K <sup>+</sup> Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

    K <sup>+</sup> Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension by Murim Choi, Ute I. Scholl, Peng Yue, Peyman Björklund, Bixiao Zhao, Carol Nelson‐Williams, Weizhen Ji, Yoonsang Cho, Aniruddh P. Patel, Clara J. Men, Elias Lolis, Max Wisgerhof, David S. Geller, Shrikant Mane, Per Hellman, Gunnar Westin, Göran Åkerström, Wen‐Hui Wang, Tobias Carling, Richard P. Lifton

    Published 2011
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  7. 7
    Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

    Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening by Bridget Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, C Girod, Jonathan C. Weissler, John Fitzgerald, Corey D. Kershaw, Julia Klesney‐Tait, Yolanda Mageto, Jerry W. Shay, Weizhen Ji, Kaya Bilgüvar, Shrikant Mane, Richard P. Lifton, Christine Kim Garcia

    Published 2015
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  8. 8
    Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation

    Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation by Paul Tyler, Molly L. Bucklin, Mengting Zhao, Timothy J. Maher, Andrew J. Rice, Weizhen Ji, Neil Warner, Jie Pan, Raffaella Morotti, Paul L. McCarthy, Anne M. Griffiths, Annemarie M. C. van Rossum, Iris H.I.M. Hollink, Virgil A. S. H. Dalm, Jason Catanzaro, Saquib A. Lakhani, Aleixo M. Muise, C. Lucas

    Published 2021
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  9. 9
    A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome

    A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome by Rehan Khan, Weizhen Ji, J Rivera, Abhilasha Madhvi, Tracy Andrews, Benjamin Richlin, Christian Suarez, Sunanda Gaur, Uzma Hasan, William S. Cuddy, Aalok R. Singh, Hülya Bükülmez, David C. Kaelber, Yukiko Kimura, Usha Ganapathi, Ioannis E. Michailidis, Rahul Ukey, Sandra Moroso-Fela, John K. Kuster, Myriam Casseus, Jason Roy, Jane C. Burns, Lawrence C. Kleinman, Daniel B. Horton, Saquib A. Lakhani, Maria Laura Gennaro

    Published 2025
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  10. 10
    Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons by Karina Griesi‐Oliveira, Allan Acab, Arpana Gupta, Daniele Yumi Sunaga, Thanathom Chailangkarn, Xavier Nicol, Yanelli Nunez, Michael F. Walker, John D. Murdoch, Stephan Sanders, Thomas Fernandez, Weizhen Ji, Richard P. Lifton, E Vadász, Alexander Dietrich, Dharani Dhar Pradhan, Hongjun Song, Guo‐li Ming, Xiang Gu, Gabriel G. Haddad, Maria C. Marchetto, Nicholas C. Spitzer, Maria Rita Passos‐Bueno, Matthew W. State, Alysson R. Muotri

    Published 2014
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  11. 11
    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome by Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer, Murim Choi, Wai Ho Tang, Moglie Le Quintrec, Fádi Fakhouri, Sophie Taque, François Nobili, Frank Martinez, Weizhen Ji, John D. Overton, Shrikant Mane, Gudrun Nürnberg, Janine Altmüller, Hölger Thiele, Denis Morin, Georges Deschênes, Véronique Baudouin, Brigitte Llanas, Laure Collard, Mohammed Abdul Majid, Eva Šimková, Peter Nürnberg, Nathalie Rioux-Leclerc, Gilbert Moeckel, Marie‐Claire Gubler, John Hwa, Chantal Loirat, Richard P. Lifton

    Published 2013
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  12. 12
    Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

    Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae by Jennifer K. Lowe, Julian Maller, Itsik Pe’er, Benjamin M. Neale, Jacqueline Salit, Eimear E. Kenny, Jessica Shea, Ralph Burkhardt, J. G. Smith, Weizhen Ji, Martha Noel, Jia Nee Foo, Maude L. Blundell, Vita Skilling, Laura Ramos García, Marcia L. Sullivan, Heather E. Lee, Anna Labek, Hope Ferdowsian, Steven B. Auerbach, Richard P. Lifton, Christopher Newton‐Cheh, Jan L. Breslow, Markus Stoffel, Mark J. Daly, David Altshuler, Jeffrey M. Friedman

    Published 2009
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  13. 13
    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome by Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily K. Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Ruth Cleaver, Diana Baralle, Meriel McEntagart, Ruth Newbury‐Ecob, Richard H. Scott, Jane A. Hurst, Ping Yee Billie Au, Marie Thérèse Hosey, Mustafa K. Khokha, Denise K. Marciano, Saquib A. Lakhani, Karen Liu

    Published 2020
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  14. 14
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder by Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Published 2024
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