Hasil Pencarian - Steven M. Harrison

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  1. 1
    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar oleh Steven M. Harrison, Heidi L. Rehm

    Diterbitkan 2019-11-01
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  2. 2
    Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life

    Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life oleh Steven M. Harrison, Nicol Corbin Bush, Yi Wang, Zachary R. Mucher, Armando J. Lorenzo, Gwen M. Grimsby, Bruce J. Schlomer, Erika E. Büllesbach, Linda A. Baker

    Diterbitkan 2019-09-01
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  3. 3
    Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

    Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns oleh Nina B. Gold, Steven M. Harrison, Jared H. Rowe, Jessica Gold, Elissa Furutani, Alessandra Biffi, Christine N. Duncan, Akiko Shimamura, Leslie E. Lehmann, Robert C. Green

    Diterbitkan 2022-01-01
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  4. 4
    Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

    Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay oleh Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng

    Diterbitkan 2024-04-01
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  5. 5
    Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

    Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene oleh Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing, Linda A. Baker

    Diterbitkan 2020-02-01
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  6. 6
    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework oleh Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group

    Diterbitkan 2019-12-01
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  7. 7
    Genetic sex validation for sample tracking in next-generation sequencing clinical testing

    Genetic sex validation for sample tracking in next-generation sequencing clinical testing oleh Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny

    Diterbitkan 2024-03-01
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  8. 8
    Recommendations for clinical interpretation of variants found in non-coding regions of the genome

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome oleh Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

    Diterbitkan 2022-07-01
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  9. 9
    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 oleh Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. 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, on behalf of the Clinical Genome Resource (ClinGen)

    Diterbitkan 2022-01-01
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