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Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J. Pers. Med. 2022, 12 , 692.
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- 2024
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- Publication type:
- Correction Notice
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.
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- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 692, doi. 10.3390/jpm12050692
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Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
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- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 949, doi. 10.1002/jgc4.1219
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Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis.
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- Schizophrenia Bulletin, 2023, v. 49, n. 4, p. 881, doi. 10.1093/schbul/sbac175
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Newborn screening for neurodevelopmental diseases: Are we there yet?
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988
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Characterizing genetic variants for clinical action.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 93, doi. 10.1002/ajmg.c.31386
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Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00867-1
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Consideration of the Beneficiary Inducement Statute on Access to Health Care Systems' Population Genetic Screening Programs.
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- Public Health Genomics, 2023, v. 26, n. 1, p. 183, doi. 10.1159/000534365
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Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.
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- Public Health Genomics, 2018, v. 20, n. 6, p. 332, doi. 10.1159/000490519
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Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 574, doi. 10.1002/ajmg.a.37477
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Generating a taxonomy for genetic conditions relevant to reproductive planning.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 565, doi. 10.1002/ajmg.a.37513
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The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2176, doi. 10.1002/ajmg.a.37129
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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.
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- 2018
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- journal article
Dnmt3a is essential for hematopoietic stem cell differentiation.
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- Nature Genetics, 2012, v. 44, n. 1, p. 23, doi. 10.1038/ng.1009
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
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- Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
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Myosin-1 nomenclature.
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- Journal of Cell Biology, 2001, v. 155, n. 5, p. 703, doi. 10.1083/jcb.200110032
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Genomic Incidental Findings: Metaphors and Methods.
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- GeneWatch, 2012, v. 25, n. 4, p. 4
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Imprinted Genes That Regulate Early Mammalian Growth Are Coexpressed in Somatic Stem Cells.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026410
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Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
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- Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
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FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. 1, doi. 10.1038/s41525-019-0105-8
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Lessons learned about harmonizing survey measures for the CSER consortium.
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- Journal of Clinical & Translational Science, 2020, v. 4, n. 6, p. 537, doi. 10.1017/cts.2020.41
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Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0725-x
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Myosin-X provides a motor-based link between integrins and the cytoskeleton.
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- Nature Cell Biology, 2004, v. 6, n. 6, p. 523, doi. 10.1038/ncb1136
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Myosin X is a downstream effector of PI(3)K during phagocytosis.
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- Nature Cell Biology, 2002, v. 4, n. 7, p. 469, doi. 10.1038/ncb805
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Myosin-X is an unconventional myosin that undergoes intrafilopodial motility.
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- Nature Cell Biology, 2002, v. 4, n. 3, p. 246, doi. 10.1038/ncb762
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Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
- Published in:
- 2021
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- Publication type:
- journal article
A microtubule-binding myosin required for nuclear anchoring and spindle assembly.
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- Nature, 2004, v. 431, n. 7006, p. 325, doi. 10.1038/nature02834
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Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 898, doi. 10.1002/mgg3.453
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Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2365, doi. 10.1093/hmg/ddz064
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
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Finding the Rare Pathogenic Variants in a Human Genome.
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- 2017
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Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.
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- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 36, doi. 10.3390/ijns9030036
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Crowdsourcing to Define the Clinical Actionability of Incidental Findings of Genetic Testing.
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- North Carolina Medical Journal, 2013, v. 74, n. 6, p. 501, doi. 10.18043/ncm.74.6.501
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Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
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- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 567, doi. 10.1002/pd.6009
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ClinGen and ClinVar – Enabling Genomics in Precision Medicine.
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- Human Mutation, 2018, v. 39, n. 11, p. 1473, doi. 10.1002/humu.23654
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
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- Human Mutation, 2018, v. 39, n. 11, p. 1531, doi. 10.1002/humu.23609
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The progression of the ClinGen gene clinical validity classification over time.
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- Human Mutation, 2018, v. 39, n. 11, p. 1494, doi. 10.1002/humu.23604
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Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.
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- Maternal & Child Health Journal, 2020, v. 24, n. 7, p. 856, doi. 10.1007/s10995-020-02953-z
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Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.
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- 2014
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- commentary
Genome-Scale Sequencing in Clinical Care.
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- 2014
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- Editorial
Next-Generation DNA Sequencing, Regulation, and the Limits of Paternalism The Next Challenge.
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- 2011
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- Opinion
Clinically Relevant Changes in Family History of Cancer Over Time.
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- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 2, p. 172, doi. 10.1001/jama.2011.955
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A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.
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- 2016
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- Opinion
Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209185
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
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- Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0683-1
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Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.
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- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04246-w
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