תוצאות חיפוש - Brian H. Shirts

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  1. 1
    Do We Now Know What Inappropriate Laboratory Utilization Is?

    Do We Now Know What Inappropriate Laboratory Utilization Is? מאת Ronald G. Hauser, Brian H. Shirts

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Revisão
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  2. 2
    Antibodies to cytomegalovirus and Herpes Simplex Virus 1 associated with cognitive function in schizophrenia

    Antibodies to cytomegalovirus and Herpes Simplex Virus 1 associated with cognitive function in schizophrenia מאת Brian H. Shirts, Konasale M. Prasad, Michael F. Pogue‐Geile, Faith Dickerson, R YOLKEN, V.L. Nimgaonkar

    יצא לאור 2008
    קבל טקסט מלא
    Artigo
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  3. 3
    CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel

    CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel מאת Cheryl Mather, Sean D. Mooney, Stephen J. Salipante, Sheena Scroggins, David Wu, Colin C. Pritchard, Brian H. Shirts

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

    Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots” מאת Jennifer N. Dines, Brian H. Shirts, Thomas P. Slavin, Tom Walsh, Mary‐Claire King, Douglas M. Fowler, Colin C. Pritchard

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance

    Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance מאת Ginger J. Tsai, John Michael O. Rañola, Christina Smith, Lauren Garrett, Timothy Bergquist, Silvia Casadei, Deborah J. Bowen, Brian H. Shirts

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification מאת Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts, Sean V Tavtigian, Heidi L Rehm

    יצא לאור 2023
    קבל טקסט מלא
    Artigo
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  7. 7
    Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

    Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy מאת Thomas C. Hart, Michael Gorry, Patricia Hart, Amy S. Woodard, Zak K. Shihabi, Jaspreet S. Sandhu, Brian H. Shirts, Linda Xu, Huaiqiu Zhu, M. Michael Barmada, Anthony J. Bleyer

    יצא לאור 2002
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    Comparison of<i> CDH1</i> Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

    Comparison of<i> CDH1</i> Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers מאת Maegan E. Roberts, John Michael O. Rañola, Megan L. Marshall, Lisa R. Susswein, Sara Graceffo, Kelsey Bohnert, Ginger J. Tsai, Rachel T. Klein, Kathleen S. Hruska, Brian H. Shirts

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

    Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) מאת Honey V. Reddi, Hannah Wand, Birgit Funke, Michael T. Zimmermann, Matthew S. Lebo, Emily Qian, Brian H. Shirts, Ying Zou, Bing Zhang, Nancy C. Rose, Aya Abu‐El‐Haija

    יצא לאור 2023
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  10. 10
    Refining the structure and content of clinical genomic reports

    Refining the structure and content of clinical genomic reports מאת Michael O. Dorschner, Laura M. Amendola, Brian H. Shirts, Lesli A. Kiedrowski, Joseph S Salama, Allan Gordon, Stephanie M. Fullerton, Peter Tarczy‐Hornoch, Peter H. Byers, Gail P. Jarvik

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN מאת Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

    Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation מאת Min Seon Park, Runjun D. Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E. McEwen, Ashley Snyder, Douglas M. Fowler, Alan F. Rubin, Brian H. Shirts, Lea M. Starita, Andrew B. Stergachis

    יצא לאור 2025
    קבל טקסט מלא
    Pré-impressão
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    שמור ב:
  13. 13
    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation מאת Hannah Gelman, Jennifer N. Dines, Jonathan S. Berg, Alice H. Berger, Sarah E. Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  14. 14
    A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes

    A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes מאת Sukh Makhnoon, Brooke Levin, Megan Ensinger, Kristin Mattie, Robert J. Volk, Zhongming Zhao, Tito R. Mendoza, Sanjay Shete, Laila Samiian, Generosa Grana, Andrew V. Grainger, Banu Arun, Brian H. Shirts, Susan K. Peterson

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  15. 15
    Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

    Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis מאת Carlos J. Gallego, Brian H. Shirts, Caroline S. Bennette, Gregory F. Guzauskas, Laura M. Amendola, Martha Horike‐Pyne, Fuki M. Hisama, Colin C. Pritchard, William M. Grady, Wylie Burke, Gail P. Jarvik, David L. Veenstra

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  16. 16
    Characterization of splice-altering mutations in inherited predisposition to cancer

    Characterization of splice-altering mutations in inherited predisposition to cancer מאת Silvia Casadei, Süleyman Gülsüner, Brian H. Shirts, Jessica B. Mandell, Hannah M. Kortbawi, Barbara M. Norquist, Elizabeth M. Swisher, Ming K. Lee, Yael Goldberg, Robert O’Connor, Zheng Tan, Colin C. Pritchard, Mary‐Claire King, Tom Walsh

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  17. 17
    Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management

    Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management מאת Sarah K. Baxter, Tom Walsh, Silvia Casadei, Mary Eckert, Eric J. Allenspach, David Hagin, Gesmar Rodrigues Silva Segundo, Ming K. Lee, Süleyman Gülsüner, Brian H. Shirts, Kathleen E. Sullivan, Michael D. Keller, Troy R. Torgerson, Mary‐Claire King

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  18. 18
    A network of dopaminergic gene variations implicated as risk factors for schizophrenia

    A network of dopaminergic gene variations implicated as risk factors for schizophrenia מאת Michael E. Talkowski, George Kirov, Mikhil Bamne, Lyudmila Georgieva, Gonzalo E. Torres, Hader Mansour, Kodavali V. Chowdari, Vihra Milanova, Joel Wood, Lora McClain, Konasale M. Prasad, Brian H. Shirts, Jianping Zhang, Michael O’Donovan, Michael J. Owen, Bernie Devlin, Vishwajit L. Nimgaonkar

    יצא לאור 2007
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  19. 19
    Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer

    Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer מאת Heather Hampel, Rachel Pearlman, Mallory Beightol, Weiqiang Zhao, Dan Jones, Wendy L. Frankel, Paul J. Goodfellow, Ahmet Yılmaz, Kristin S. Miller, Jason Bacher, Angela Jacobson, Electra D. Paskett, Peter G. Shields, Richard M. Goldberg, Albert de la Chapelle, Brian H. Shirts, Colin C. Pritchard

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  20. 20
    Improving performance of multigene panels for genomic analysis of cancer predisposition

    Improving performance of multigene panels for genomic analysis of cancer predisposition מאת Brian H. Shirts, Silvia Casadei, Angela Jacobson, Ming K. Lee, Süleyman Gülsüner, Robin L. Bennett, M H Miller, Sarah Hall, Heather Hampel, Fuki M. Hisama, Lorraine Naylor, Cathleen M. Goetsch, Kathleen A. Leppig, Jonathan F. Tait, Sheena Scroggins, Emily H. Turner, Robert Livingston, Stephen J. Salipante, Mary‐Claire King, Tom Walsh, Colin C. Pritchard

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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