Showing 1 - 6 results of 6 for search '"Genetics in Medicine Open"', query time: 0.03s Refine Results
  1. 1
    Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization

    Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization by Calvin Le, Kevin Tatunay, Wayne Liu, Haibo Lu, Nicole-Ann Rodis, Thomas Nam, Mercy Y. Laurino, Marianne E. Dubard-Gault

    Published 2025-01-01
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  2. 2
    Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer

    Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer by Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu

    Published 2025-01-01
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  3. 3
    An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes

    An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes by Lauren Boucher, Berkley Nestler, Daniel Groepper, John Quillin, David Deyle, Colin M.E. Halverson

    Published 2025-01-01
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  4. 4
    College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance

    College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance by Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, Nicola Longo, Sarah Young

    Published 2025-01-01
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  5. 5
    Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing

    Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing by Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu

    Published 2025-01-01
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  6. 6
    Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

    Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia by Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

    Published 2025-01-01
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