The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
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The ACMG recommends a carrier frequency of >1/200 for inclusion on population-specific screening panels.
“For inclusion on these population-specific screening panels, the ACMG recommends a carrier frequency of >1/200 (5, 6).”
From Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi (2026) · cites this paper as [5]
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Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
ClinGen — The Clinical Genome Resource
Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1406261 · Cited by 1,496
The sequence of sequencers: The history of sequencing DNA
Heather, J. M., & Chain, B. (2016) · Genomics · doi:10.1016/j.ygeno.2015.11.003 · Cited by 1,397
The changing racial and ethnic composition of the US population: Emerging American identities
Perez, A. D., & Hirschman, C. (2009) · Population and Development Review · doi:10.1111/j.1728-4457.2009.00260.x · Cited by 302
Flagged first, then by citations
Research works printed but not linked: 15
- 2017, National Tay-Sachs and Allied Diseases
- Kaback, 1993, Tay–Sachs disease—carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network, JAMA, 270, 2307, 10.1001/jama.1993.03510190063028 · DOI
- 2020, National Human Genome Research Institute. The cost of sequencing a human genome
- Rehder, 2021, Next generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG), Genet. Med., 10.1038/s41436-021-01139-4 · DOI
- Burke, 2014, Genetic tests: clinical validity and clinical utility, Curr. Protoc. Hum. Genet., 81, 9.15.1
- ClinVar. https://www.ncbi.nlm.nih.gov/clinvar/ (2021).
- 2021, BlueCross BlueShield Assocation
- 2000, Census, race and science, Nat. Genet., 24, 97, 10.1038/72884 · DOI
- Risch, 2002, Categorization of humans in biomedical research: genes, race and disease, Genome Biol, 3, 10.1186/gb-2002-3-7-comment2007 · DOI
- Brothers, 2021, Taking an antiracist posture in scientific publications in human genetics and genomics, Genet. Med., 23, 1004, 10.1038/s41436-021-01109-w · DOI
- Gross, 2008, Carrier screening in individuals of Ashkenazi Jewish descent, Genet. Med., 10, 54, 10.1097/GIM.0b013e31815f247c · DOI
- Miller, 2021, ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG), Genet. Med.
- Murray, 2021, DNA-based screening and population health: a points to consider document for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG), Genet Med, 10.1038/s41436-020-01082-w · DOI
- OMIM. https://www.ncbi.nlm.nih.gov/omim (2021).
- Witkop, 1990, Hermansky-Pudlak syndrome (HPS). An epidemiologic study, Ophthalmic Paediatr. Genet., 11, 245, 10.3109/13816819009020986 · DOI
Cited by
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Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi
Shanks, C., Huang, E. C., Thomassin, C., Emde, A.-K., Rodière, V., Moraga, M., Sandoval, K., Merriman, T., Pascart, T., Moreno-Estrada, A., et al. (2026) · Science · doi:10.1126/science.aec7662
Metadata
- Authors
- Gregg, A. R., Aarabi, M., Klugman, S., Leach, N. T., Bashford, M. T., Goldwaser, T., Chen, E., Sparks, T. N., Reddi, H. V., Rajkovic, A., & Dungan, J. S.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2021-10
- Volume
- 23
- Issue
- 10
- Pages
- 1793-1806
- ISSN
- 1098-3600
- PMC
- PMC8488021
- Cited by
- 367
- References
- 4
- Language
- en
- Update notices
- erratum (2021-10-01)
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