Результати пошуку - Lora Jh Bean

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  1. 1
    Phosphorylation of chicken cardiac C-protein by calcium/calmodulin-dependent protein kinase II.

    Phosphorylation of chicken cardiac C-protein by calcium/calmodulin-dependent protein kinase II. за авторством Keith K. Schlender, Lora Jh Bean

    Опубліковано 1991
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  2. 2
    Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

    Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data за авторством Lora Jh Bean, Stuart W. Tinker, Cristina da Silva, Madhuri Hegde

    Опубліковано 2013
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  3. 3
    Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

    Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine за авторством Kathryn B. Garber, Lisa M. Vincent, John Alexander, Lora Jh Bean, Sherri J. Bale, Madhuri Hegde

    Опубліковано 2016
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  4. 4
    A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

    A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield за авторством Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora Jh Bean, Christin Collins, Alice Tanner, Madhuri Hegde

    Опубліковано 2014
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  5. 5
    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) за авторством Lora Jh Bean, Birgit Funke, Colleen M. Carlston, Jennifer Gannon, Sibel Kantarci, Bryan L. Krock, Shulin Zhang, Pınar Bayrak‐Toydemir

    Опубліковано 2019
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  6. 6
    Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

    Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies за авторством Patrick Yu‐Wai‐Man, Suma P. Shankar, Valérie Biousse, Neil R. Miller, Lora Jh Bean, Bradford Coffee, Madhuri Hegde, Nancy J. Newman

    Опубліковано 2010
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  7. 7
    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACM... за авторством Catherine Rehder, Lora Jh Bean, David Bick, Elizabeth Chao, Wendy K. Chung, Soma Das, Julianne O’Daniel, Heidi L. Rehm, Vandana Shashi, Lisa M. Vincent

    Опубліковано 2021
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  8. 8
    A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing

    A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing за авторством Babi Ramesh Reddy Nallamilli, Alka Chaubey, C. Alexander Valencia, Leah Stansberry, Andrea Behlmann, Zeqiang Ma, Abhinav Mathur, Suresh Shenoy, Srividya Ganapathy, Lakshmanan Jagannathan, Vinish Ramachander, Alessandra Ferlini, Lora Jh Bean, Madhuri Hegde

    Опубліковано 2021
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  9. 9
    An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

    An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects за авторством C. Ackerman, Adam E. Locke, Eleanor Feingold, Benjamin Reshey, Karina España, Janita Thusberg, Sean D. Mooney, Lora Jh Bean, Kenneth J. Dooley, L. Clifford, Roger H. Reeves, Stephanie L. Sherman, Cheryl L. Maslen

    Опубліковано 2012
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  10. 10
    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants за авторством Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora Jh Bean, Arunkanth Ankala, Daniela del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne Meck

    Опубліковано 2019
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  11. 11
    Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

    Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome за авторством Adam E. Locke, Kenneth J. Dooley, Stuart W. Tinker, Soo Yeon Cheong, Eleanor Feingold, Emily G. Allen, Sallie B. Freeman, Claudine P. Torfs, L. Clifford, Michael P. Epstein, Michael C. Wu, Xihong Lin, George Capone, Stephanie L. Sherman, Lora Jh Bean

    Опубліковано 2010
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  12. 12
    Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project

    Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project за авторством Lora Jh Bean, Emily G. Allen, Stuart W. Tinker, NaTasha D. Hollis, Adam E. Locke, Charlotte M. Druschel, Charlotte A. Hobbs, Leslie A. O’Leary, Paul A. Romitti, Marjorie H. Royle, Claudine P. Torfs, Kenneth J. Dooley, Sallie B. Freeman, Stephanie L. Sherman

    Опубліковано 2011
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  13. 13
    Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients

    Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients за авторством Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John Alexander, S. Hussain Askree, Zachary Whitt, Lora Jh Bean, Christin Collins, Satish V. Khadilkar, Pradnya Gaitonde, Rashna Dastur, Matthew Wicklund, Tahseen Mozaffar, Matthew Harms, Laura Rufibach, Plavi Mittal, Madhuri Hegde

    Опубліковано 2018
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  14. 14
    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing за авторством Johanna Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Jh Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zöe Powis, Grace M. Hobson, Susan M. Kirwin, Bryan L. Krock, Hane Lee, Joshua L. Deignan, Maggie Westemeyer, Ryan Subaran, Isabelle Thiffault, Ellen Tsai, Terry Fang, Guy Helman, Adeline Vanderver

    Опубліковано 2020
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