x
Filter:
Filters applied
- ACMG Statements and Guidelines
- December 2022 - March 2023Remove December 2022 - March 2023 filter
Author
- Abu-El-Haija, Aya1
- Burrage, Lindsay C1
- Chapman, Kimberly A1
- Chen, Margaret1
- Evans, Barbara J1
- Fullerton, Stephanie M1
- Ginevic, Ilona1
- Gonzales, Patrick R1
- Graham, Brett H1
- Huang, Samuel J1
- Massingham, Lauren J1
- Mazariegos, George V1
- Mori, Mari1
- Murray, Michael F1
- O'Daniel, Julianne M1
- Qian, Emily1
- Reddi, Honey V1
- Rose, Nancy C1
- Sen, Kuntal1
- Stewart, Douglas R1
- Stiles, Ashlee R1
- Tayeh, Marwan K1
- Wand, Hannah1
Keyword
- Clinical applications1
- Designated record set1
- Health Insurance Portability and Accountability Act of 1996 (HIPAA)1
- Individual access right1
- Kidney transplant1
- Limitations and challenges1
- Liver transplant1
- Metabolic decompensation1
- Methylmalonic acidemia1
- Polygenic risk scores1
- Privacy Rule1
- Propionic acidemia1
- Protected health information (PHI)1
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 Statement
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineIn Press Corrected ProofPublished online: March 15, 2023- Aya Abu-El-Haija
- Honey V. Reddi
- Hannah Wand
- Nancy C. Rose
- Mari Mori
- Emily Qian
- and others
Cited in Scopus: 0Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait, disorder, or disease results from the combined contribution of variants from multiple genes. Most chronic illnesses and complex disorders are multifactorial and are associated with polygenic inheritance and environmental influences. Genome-wide association studies (GWAS) evaluate the association of specific loci with various complex disorders, such as cardiovascular disease, diabetes, cancer, neuropsychiatric conditions, or individual traits, such as height and blood pressure. - ACMG Statement
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 3100342Published online: December 22, 2022- Marwan K. Tayeh
- Margaret Chen
- Stephanie M. Fullerton
- Patrick R. Gonzales
- Samuel J. Huang
- Lauren J. Massingham
- and others
Cited in Scopus: 0Individuals have a right to access certain information in their medical records as established under the Health Insurance Portability and Accountability Act of 1996 (HIPAA).1 The specific information to which individuals have access is called a designated record set (DRS), a legal term of art defined in the HIPAA Standards for Privacy of Individually Identifiable Health Information (Privacy Rule).2 The Privacy Rule is a federal medical privacy law that applies to most clinical laboratories operating in the United States. - ACMG Statement
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 2100337Published online: December 19, 2022- Kuntal Sen
- Lindsay C. Burrage
- Kimberly A. Chapman
- Ilona Ginevic
- George V. Mazariegos
- Brett H. Graham
- and others
Cited in Scopus: 0Methylmalonic acidemia (MMA; OMIM 251000 , OMIM 251100 , OMIM 251110 , OMIM 277410 , OMIM 277400 ) and propionic acidemia (PA; OMIM 606054 ) are inborn errors of metabolism of the propionate pathway characterized by accumulation of methylmalonic acid and propionic acid, respectively, leading to acute presentations related to metabolic acidosis and hyperammonemia, as well as chronic heterogenous complications.
