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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
4 Results
- CorrectionOpen Archive
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)
Genetics in MedicineVol. 23Issue 11p2230Published in issue: November, 2021- Erin Rooney Riggs
- Erica F. Andersen
- Athena M. Cherry
- Sibel Kantarci
- Hutton Kearney
- Ankita Patel
- and others
Cited in Scopus: 8The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8 . - ACMG-Practice-ResourceOpen Archive
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 19Issue 8p845–850Published in issue: August, 2017- Athena M Cherry
- Yassmine M Akkari
- Kimberly M Barr
- Hutton M Kearney
- Nancy C Rose
- Sarah T South
- and others
Cited in Scopus: 23Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. - ACMG Standards and GuidelinesOpen Archive
Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities
Genetics in MedicineVol. 18Issue 6p635–642Published in issue: June, 2016- Fady M. Mikhail
- Nyla A. Heerema
- Kathleen W. Rao
- Rachel D. Burnside
- Athena M. Cherry
- Linda D. Cooley
- and others
Cited in Scopus: 16Disclaimer: These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. - ACMG Policy StatementOpen Archive
Risk categorization for oversight of laboratory-developed tests for inherited conditions
Genetics in MedicineVol. 15Issue 4p314–315Published in issue: April, 2013- Kristin G. Monaghan
- Judith Benkendorf
- Athena M. Cherry
- Susan J. Gross
- C. Sue Richards
- Vernon Reid Sutton
- and others
Cited in Scopus: 10This document represents the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to classify laboratory-developed tests for inherited conditions. Risk classification has been the determinant of whether or not medical tests are overseen and regulated by the US Food and Drug Administration (FDA). Therefore, because laboratory-developed tests for germline mutations continue to proliferate without sound regulatory frameworks in place, an ACMG-appointed workgroup of laboratorians and clinicians considered the medical risks and implications resulting from germline mutation analysis in a variety of contexts to develop the proposed approach.
