Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

110 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: qian e. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Reddi HV, Wand H, Funke B, Zimmermann MT, Lebo MS, Qian E, Shirts BH, Zou YS, Zhang BM, Rose NC, Abu-El-Haija A; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Reddi HV, et al. Among authors: qian e. Genet Med. 2023 May;25(5):100804. doi: 10.1016/j.gim.2023.100804. Epub 2023 Mar 27. Genet Med. 2023. PMID: 36971772 Free article. No abstract available.
Design and Reporting Considerations for Genetic Screening Tests.
Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Hagenkord J, et al. Among authors: qian e. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. J Mol Diagn. 2020. PMID: 32092541 Free article. Review.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E, Murray MF; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Abu-El-Haija A, et al. Among authors: qian e. Genet Med. 2023 May;25(5):100803. doi: 10.1016/j.gim.2023.100803. Epub 2023 Mar 15. Genet Med. 2023. PMID: 36920474 Free article. No abstract available.
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. Werner KM, et al. Among authors: qian e. Am J Med Genet A. 2022 Jan;188(1):357-363. doi: 10.1002/ajmg.a.62520. Epub 2021 Oct 8. Am J Med Genet A. 2022. PMID: 34623748 Free PMC article.
110 results