Cynthia Marion Powell


Ontology type: schema:Person     


Person Info

NAME

Cynthia Marion

SURNAME

Powell

Publications in SciGraph latest 50 shown

  • 2021-03-31 DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG) in GENETICS IN MEDICINE
  • 2021-03-29 Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making in GENOME MEDICINE
  • 2020-06-18 Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice in GENETICS IN MEDICINE
  • 2020-05-18 Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support in MATERNAL AND CHILD HEALTH JOURNAL
  • 2020-01-24 An approach to integrating exome sequencing for fetal structural anomalies into clinical practice in GENETICS IN MEDICINE
  • 2019-12-10 FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation in NPJ GENOMIC MEDICINE
  • 2019-07-17 Early Check: translational science at the intersection of public health and newborn screening in BMC PEDIATRICS
  • 2018-06-28 Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol in TRIALS
  • 2017-08-03 Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete choice experiment in GENETICS IN MEDICINE
  • 2017-05-18 Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges in GENETICS IN MEDICINE
  • 2016-11-17 Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics in GENETICS IN MEDICINE
  • 2015-08-13 A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing in GENETICS IN MEDICINE
  • 2013-06-04 Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy in NATURE COMMUNICATIONS
  • 2013-02-01 Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study in JOURNAL OF GENETIC COUNSELING
  • 2012-08-30 Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development in THE PRINCIPLES OF CLINICAL CYTOGENETICS
  • 2012-01-05 Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases in NEUROGENETICS
  • 2010-01 Laboratory guideline for Turner syndrome in GENETICS IN MEDICINE
  • 2008-09-02 Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10) in ACTA NEUROPATHOLOGICA
  • 2005 Sex Chromosomes and Sex Chromosome Abnormalities in THE PRINCIPLES OF CLINICAL CYTOGENETICS
  • 1999-02 Duplication 17p11.2 in two patients in GENETICS IN MEDICINE
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