检索结果 - Marina T. DiStefano

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  1. 1
    The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis

    The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis 由 Marina T. DiStefano, Laura V. Danai, Rachel J. Roth Flach, Anil Chawla, David J. Pedersen, Adı́lson Guilherme, Michael Czech

    出版 2015
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  2. 2
    A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

    A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement 由 Annie Niehaus, Danielle R. Azzariti, Steven M. Harrison, Marina T. DiStefano, Sarah E. Hemphill, Ozlem Senol-Cosar, Heidi L. Rehm

    出版 2019
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  3. 3
    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

    Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion 由 Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano, Andrea M. Oza, Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison

    出版 2018
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  4. 4
    Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

    Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation 由 Courtney Thaxton, Jennifer Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg

    出版 2022
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  5. 5
    IL-1 Signaling in Obesity-Induced Hepatic Lipogenesis and Steatosis

    IL-1 Signaling in Obesity-Induced Hepatic Lipogenesis and Steatosis 由 Kimberly A. Negrin, Rachel J. Roth Flach, Marina T. DiStefano, Anouch Matevossian, Randall H. Friedline, DaeYoung Jung, Jason K. Kim, Michael Czech

    出版 2014
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  6. 6
    Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) 由 Marilyn M. Li, Ahmad Abou Tayoun, Marina T. DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga‐Itano

    出版 2022
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  7. 7
    ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

    ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data 由 Alex Henrie, Sarah E. Hemphill, Nicole Ruiz-Schultz, Brandon J. Cushman, Marina T. DiStefano, Danielle R. Azzariti, Steven M. Harrison, Heidi L. Rehm, Karen Eilbeck

    出版 2018
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  8. 8
    Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

    Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification 由 Courtney Thaxton, Molly E. Good, Marina T. DiStefano, Xi Luo, Erica Andersen, Erik C. Thorland, Jonathan S. Berg, Christa Lese Martin, Heidi L. Rehm, Erin Rooney Riggs

    出版 2021
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  9. 9
    HGVS Nomenclature 2024: improvements to community engagement, usability, and computability

    HGVS Nomenclature 2024: improvements to community engagement, usability, and computability 由 Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros Hastings, Jeroen F. J. Laros, Rachel L. Taylor, Alex H. Wagner, Johan T. den Dunnen

    出版 2024
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  10. 10
    Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion

    Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion 由 Ozlem Senol-Cosar, Rachel J. Roth Flach, Marina T. DiStefano, Anil Chawla, Sarah M. Nicoloro, Juerg Straubhaar, Olga T. Hardy, Hye Lim Noh, Jason K. Kim, Martin Wabitsch, Philipp E. Scherer, Michael Czech

    出版 2016
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  11. 11
    Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance

    Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance 由 Marina T. DiStefano, Rachel J. Roth Flach, Ozlem Senol-Cosar, Laura V. Danai, Joseph V. Virbasius, Sarah M. Nicoloro, Juerg Straubhaar, Sezin Dağdeviren, Martin Wabitsch, Olga T. Gupta, Jason K. Kim, Michael Czech

    出版 2016
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  12. 12
    Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

    Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood 由 Amit V. Khera, Mark Chaffin, Kaitlin H. Wade, Sohail Zahid, Joseph Brancale, Rui Xia, Marina T. DiStefano, Ozlem Senol-Cosar, Mary E. Haas, Alexander G. Bick, Krishna G. Aragam, Eric S. Lander, George Davey Smith, Heather Mason‐Suares, Myriam Fornage, Matthew S. Lebo, Nicholas J. Timpson, Lee M. Kaplan, Sekar Kathiresan

    出版 2019
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  13. 13
    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss 由 Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. Booth, Héla Azaiez, Andrew J. Griffith, Karen B. Avraham, Hannie Kremer, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun

    出版 2018
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  14. 14
    ClinVar database of global familial hypercholesterolemia‐associated DNA variants

    ClinVar database of global familial hypercholesterolemia‐associated DNA variants 由 Michael A. Iacocca, Joana Rita Chora, Alain Carrié, Tomáš Freiberger, S. E. A. Leigh, Joep C. Defesche, C. Lisa Kurtz, Marina T. DiStefano, Raúl D. Santos, Steve E. Humphries, Pedro Mata, Cinthia E. Jannes, Amanda J. Hooper, Katherine Wilemon, Pascale Benlian, Robert O’Connor, John Garcia, Hannah Wand, Lukáš Tichý, Eric J.G. Sijbrands, Robert A. Hegele, Mafalda Bourbon, Joshua W. Knowles

    出版 2018
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  15. 15
    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource 由 Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, Julianne O’Daniel, Erin M. Ramos, Avni Santani, Alan L. Scott, Sharon E. Plon, Heidi L. Rehm, Christa Lese Martin, Jonathan S. Berg

    出版 2017
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  16. 16
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation 由 Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    出版 2024
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  17. 17
    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines 由 Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa

    出版 2022
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  18. 18
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources 由 Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    出版 2022
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  19. 19
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel 由 Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    出版 2019
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  20. 20
    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss 由 Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, Héla Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, John H. Greinwald, Jeffrey T. Holt, Makoto Hosoya, Un‐Kyung Kim, Ian D. Krantz, Suzanne M. Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morin, Cynthia C. Morton, Hideki Mutai, Arti Pandya, Richard J. Smith, Mustafa Tekin, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang

    出版 2021
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