检索结果 - Kristin G. Monaghan

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  1. 1
    ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

    ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the Americ... 由 Kristin G. Monaghan, Elaine Lyon, Elaine Spector

    出版 2013
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  2. 2
    Carrier screening in individuals of Ashkenazi Jewish descent

    Carrier screening in individuals of Ashkenazi Jewish descent 由 Susan J. Gross, Beth A. Pletcher, Kristin G. Monaghan

    出版 2008
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  3. 3
    The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

    The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) 由 Kristin G. Monaghan, Natalia T. Leach, Dawn Pekarek, Priya Prasad, Nancy C. Rose

    出版 2020
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  4. 4
    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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  5. 5
    Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

    Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genet... 由 J.S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best

    出版 2022
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  6. 6
    ACMG position statement on prenatal/preconception expanded carrier screening

    ACMG position statement on prenatal/preconception expanded carrier screening 由 Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo

    出版 2013
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  7. 7
    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics 由 Anthony R. Gregg, Brian G. Skotko, Judith Benkendorf, Kristin G. Monaghan, Komal Bajaj, Robert G. Best, Susan Klugman, Michael S. Watson

    出版 2016
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  8. 8
    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

    Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development 由 Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R. Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola

    出版 2017
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  9. 9
    Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism

    Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism 由 Benjamin A. Rybicki, Christine Neslund‐Dudas, Nora L. Nock, Lonni Schultz, Ludmila Eklund, James Rosbolt, Cathryn H. Bock, Kristin G. Monaghan

    出版 2006
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  10. 10
    CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) 由 Joshua L. Deignan, Caroline Astbury, Garry R. Cutting, Daniela del Gaudio, Anthony R. Gregg, Wayne W. Grody, Kristin G. Monaghan, Sue Richards

    出版 2020
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  11. 11
    Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

    Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations 由 David G. Huntsman, Fátima Carneiro, Frank R. Lewis, Patrick MacLeod, Allen Hayashi, Kristin G. Monaghan, Raymond Maung, Raquel Seruca, Charles E. Jackson, Carlos Caldas

    出版 2001
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  12. 12
    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies 由 Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, Elizabeth Bhoj

    出版 2018
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  13. 13
    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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  14. 14
    DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

    DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG... 由 Michael F. Murray, Monica A. Giovanni, Debra Lochner Doyle, Steven M. Harrison, Elaine Lyon, Kandamurugu Manickam, Kristin G. Monaghan, Sonja A. Rasmussen, Maren T. Scheuner, Glenn E. Palomaki, Michael S. Watson

    出版 2021
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  15. 15
    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects 由 Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung

    出版 2016
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  16. 16
    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females 由 Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, Christina Botti, Gordon C. Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2016
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  17. 17
    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 由 Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
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  18. 18
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features 由 Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    出版 2016
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  19. 19
    Clinical application of whole-exome sequencing across clinical indications

    Clinical application of whole-exome sequencing across clinical indications 由 Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan, Dianalee McKnight, Renkui Bai, Sharon F. Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda‐Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K. Chung, Sherri J. Bale

    出版 2015
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  20. 20
    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans 由 Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

    出版 2019
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