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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

246 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genomic sequencing research in pediatric cancer care: Decision making, attitudes, and perceived utility among adolescents and young adults and their parents.
Gutierrez AM, Robinson JO, Smith HS, Desrosiers-Battu LR, Scollon SR, Canfield I, Hsu RL, Schneider NM, Parsons DW, Plon SE, Allen-Rhoades W, Majumder MA, Malek J, McGuire AL. Gutierrez AM, et al. Among authors: plon se. Genet Med. 2024 Aug;26(8):101168. doi: 10.1016/j.gim.2024.101168. Epub 2024 May 17. Genet Med. 2024. PMID: 38767058
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC; Global Alliance for Genomics and Health Regulatory and Ethics Workstream. Friedman JM, et al. Among authors: plon se. Genet Med. 2024 Feb;26(2):101033. doi: 10.1016/j.gim.2023.101033. Epub 2023 Nov 23. Genet Med. 2024. PMID: 38007624 Free article.
Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".
Vuocolo B, Gutierrez AM, Robinson JO, Recinos AM, Desrosiers LR, Majumder MA, Bernini JC, Gill J, Griffin T, Tomlinson GE, Vallance K, McGuire AL, Parsons DW, Plon SE, Scollon S. Vuocolo B, et al. Among authors: plon se. J Genet Couns. 2024 Dec;33(6):1337-1350. doi: 10.1002/jgc4.1858. Epub 2024 Jan 15. J Genet Couns. 2024. PMID: 38225886
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.
Popejoy AB, Ritter DI, Azzariti D, Berg JS, Bulkley JE, Cho M, Gonzaga-Jauregui C, Klein TE, Martschenko DO, Oni-Orisan A, Ramos EM, Rehm HL, Riggs ER, Wright MW, Yudell M, Plon SE, Morales J. Popejoy AB, et al. Among authors: plon se. Am J Hum Genet. 2025 Jan 7:S0002-9297(24)00451-8. doi: 10.1016/j.ajhg.2024.12.009. Online ahead of print. Am J Hum Genet. 2025. PMID: 39793579 Review.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: plon se. Annu Rev Biomed Data Sci. 2024 Aug;7(1):31-50. doi: 10.1146/annurev-biodatasci-102423-112456. Epub 2024 Jul 24. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: plon se. Genome Med. 2024 Dec 3;16(1):143. doi: 10.1186/s13073-024-01392-7. Genome Med. 2024. PMID: 39627863 Free PMC article.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: plon se. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
246 results