检索结果 - Hutton M. Kearney

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  1. 1
    ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

    ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 由 Sarah T. South, Charles Lee, Allen N. Lamb, Anne W. Higgins, Hutton M. Kearney

    出版 2013
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  2. 2
    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants 由 Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero‐Rivera, Sarah T. South

    出版 2011
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  3. 3
    Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

    Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays 由 Nicole L. Hoppman, Kandelaria M. Rumilla, Emily Lauer, Hutton M. Kearney, Erik C. Thorland

    出版 2018
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  4. 4
    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal sett... 由 Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    出版 2011
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  5. 5
    Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) 由 Joshua L. Deignan, Wendy K. Chung, Hutton M. Kearney, Kristin G. Monaghan, Catherine Rehder, Elizabeth Chao

    出版 2019
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  6. 6
    REC, Drosophila MCM8, Drives Formation of Meiotic Crossovers

    REC, Drosophila MCM8, Drives Formation of Meiotic Crossovers 由 Hunter L. Blanton, Sarah J. Radford, Susan McMahan, Hutton M. Kearney, Joseph G. Ibrahim, Jeff Sekelsky

    出版 2005
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  7. 7
    Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Ge... 由 Athena M. Cherry, Yassmine Akkari, Kimberly M. Barr, Hutton M. Kearney, Nancy C. Rose, Sarah T. South, James Tepperberg, Jeanne Meck

    出版 2017
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  8. 8
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic 由 Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm

    出版 2020
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  9. 9
    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Gen... 由 Kandamurugu Manickam, Monica R. McClain, Laurie Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren Massingham, Danny E. Miller, Timothy W. Yu, Fuki M. Hisama

    出版 2021
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  10. 10
    Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

    Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization 由 James T. Mascarello, Betsy Hirsch, Hutton M. Kearney, Rhett P. Ketterling, Susan B. Olson, Denise I. Quigley, Kathleen W. Rao, James Tepperberg, Karen D. Tsuchiya, Anne E. Wiktor

    出版 2011
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  11. 11
    Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

    Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) 由 Joshua L. Deignan, Anthony R. Gregg, Wayne W. Grody, Michael H. Guo, Hutton M. Kearney, Kristin G. Monaghan, Karen S. Raraigh, Jennifer Taylor, Cinthya Zepeda‐Mendoza, Catherine A. Ziats

    出版 2023
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  12. 12
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... 由 Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    出版 2019
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  13. 13
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... 由 Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    出版 2021
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  14. 14
    <scp>C</scp>opy number variant analysis using genome‐wide mate‐pair sequencing

    <scp>C</scp>opy number variant analysis using genome‐wide mate‐pair sequencing 由 James B. Smadbeck, Sarah H. Johnson, Stephanie A. Smoley, Athanasios Gaitatzes, Travis Drucker, Roman M. Zenka, Farhad Kosari, Stephen J. Murphy, Nicole L. Hoppman, Umut Aypar, William R. Sukov, Robert B. Jenkins, Hutton M. Kearney, Andrew L. Feldman, George Vasmatzis

    出版 2018
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  15. 15
    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease 由 Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Matthew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon

    出版 2020
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  16. 16
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing 由 Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm

    出版 2022
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  17. 17
    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities 由 Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying Zou, Wen‐Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steve Skinner, R. Curtis Rogers, David B. Everman, E. Boyd, Caley Tapp, Sureni V. Mullegama, Debra Keelean‐Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara R. DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

    出版 2013
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  18. 18
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change 由 Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    出版 2023
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