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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.
3 Results
- ACMG StatementOpen Archive
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 21Issue 7p1467–1468Published in issue: July, 2019- ACMG Board of Directors
Cited in Scopus: 41The American College of Medical Genetics and Genomics (ACMG) has previously published policy statements on the reporting of secondary findings in clinical exome and genome sequencing (ACMG SF v1.0 and ACMG SF v2.0), also known as the “ACMG 56” and “ACMG 59,” respectively.1,2 These recommendations specifically stated that “reporting some incidental [a.k.a. secondary] findings would likely have medical benefit for the patients and families of patients undergoing clinical sequencing” (ACMG board’s emphasis). - ACMG-Practice-GuidelinesOpen Archive
Carrier screening for spinal muscular atrophy
Genetics in MedicineVol. 10Issue 11p840–842Published in issue: November, 2008- Thomas W. Prior
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 184The autosomal recessive disorder proximal spinal muscular atrophy (SMA, MIM #253300) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated prevalence of 1 in 10,000 live births and a carrier frequency of 1/40–1/60. Childhood SMA is subdivided into three clinical groups on the basis of age of onset and clinical course: type I SMA (Werdnig-Hoffmann) is characterized by severe, generalized muscle weakness and hypotonia at birth or within the first 3 months. - ACMG-Practice-GuidelinesOpen Archive
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population
Genetics in MedicineVol. 10Issue 1p57–72Published in issue: January, 2008- Kristin G. Monaghan
- Gerald L. Feldman
- Glenn E. Palomaki
- Elaine B. Spector
- Ashkenazi Jewish Reproductive Screening Working Group
- the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 35These Technical Standards and Guidelines were 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 assure 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.
