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1 . Academic Journal
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
저자
by
Kimberly S. Foss
;
Julianne M. O’Daniel
;
Jonathan S. Berg
;
Sabrina N. Powell
;
Rosemary Jean Cadigan
, et al.
소스
Journal of Personalized Medicine, Vol 14, Iss 3, p 234 (2024)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
저자
by
Christine G. Preston
;
Matt W. Wright
;
Rao Madhavrao
;
Steven M. Harrison
;
Jennifer L. Goldstein
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation
저자
by
Laura V. Milko
;
Jonathan S. Berg
.
소스
International Journal of Neonatal Screening, Vol 9, Iss 3, p 36 (2023)
Open Access (DOAJ)
Scopus
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4 . Academic Journal
Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing
저자
by
Dayne L. Filer
;
Fengshen Kuo
;
Alicia T. Brandt
;
Christian R. Tilley
;
Piotr A. Mieczkowski
, et al.
소스
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-16 (2021)
Open Access (BioMed Central)
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Scopus
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7 . Academic Journal
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
저자
by
Brooke S. Staley
;
Laura V. Milko
;
Margaret Waltz
;
Ida Griesemer
;
Lonna Mollison
, et al.
소스
Trials, Vol 22, Iss 1, Pp 1-19 (2021)
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7 . Academic Journal
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making
저자
by
Daniela M. DeCristo
;
Laura V. Milko
;
Julianne M. O’Daniel
;
Ann Katherine M. Foreman
;
Lonna F. Mollison
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-13 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Lessons learned about harmonizing survey measures for the CSER consortium
저자
by
Katrina A.B. Goddard
;
Frank A.N. Angelo
;
Sara L. Ackerman
;
Jonathan S. Berg
;
Barbara B. Biesecker
, et al.
소스
Journal of Clinical and Translational Science, Vol 4, Pp 537-546 (2020)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
저자
by
Sarah E. Brnich
;
Ahmad N. Abou Tayoun
;
Fergus J. Couch
;
Garry R. Cutting
;
Marc S. Greenblatt
, et al.
소스
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
저자
by
Dona M. Kanavy
;
Shannon M. McNulty
;
Meera K. Jairath
;
Sarah E. Brnich
;
Chris Bizon
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-19 (2019)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation
저자
by
Kimberly S. Foss
;
Julianne M. O’Daniel
;
Jonathan S. Berg
;
Sabrina N. Powell
;
Rosemary Jean Cadigan
, et al.
소스
Journal of Personalized Medicine, Vol 12, Iss 5, p 692 (2022)
Open Access (DOAJ)
Scopus
Web of Science
JCR 저널정보
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Export
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