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Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Matalon DR, Zepeda-Mendoza CJ, Aarabi M, Brown K, Fullerton SM, Kaur S, Quintero-Rivera F, Vatta M; ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee. Electronic address: documents@acmg.net. Matalon DR, et al. Among authors: quintero rivera f. Genet Med. 2023 Jun;25(6):100812. doi: 10.1016/j.gim.2023.100812. Epub 2023 Apr 14. Genet Med. 2023. PMID: 37058144 Free article. No abstract available.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Massingham LJ, Nuñez S, Bernstein JA, Gardner DP, Parikh AS, Strovel ET, Quintero-Rivera F; Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup. Massingham LJ, et al. Among authors: quintero rivera f. Genet Med. 2022 Oct;24(10):2167-2179. doi: 10.1016/j.gim.2022.07.014. Epub 2022 Aug 31. Genet Med. 2022. PMID: 36040446 Free article.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Verscaj CP, et al. Among authors: quintero rivera f. Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26. Prenat Diagn. 2024. PMID: 37632214 Review.
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA, Chin Y, Pratti S, Quinn C, Gonzalez-Cuyar LF, Weiss M, Quintero-Rivera F, Kimonis V. Columbres RCA, et al. Among authors: quintero rivera f. Genes (Basel). 2023 Mar 8;14(3):676. doi: 10.3390/genes14030676. Genes (Basel). 2023. PMID: 36980948 Free PMC article.
Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities.
Pannunzio N, Rangel V, Sterrenberg J, Garawi A, Mezcord V, Folkerts M, Caulderon S, Wang J, Soyfer E, Eng O, Valerin J, Tanjasiri S, Quintero-Rivera F, Masri S, Seldin M, Frock R, Fleischman A. Pannunzio N, et al. Among authors: quintero rivera f. Res Sq [Preprint]. 2023 Sep 11:rs.3.rs-3332673. doi: 10.21203/rs.3.rs-3332673/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Jul 27;15(1):6331. doi: 10.1038/s41467-024-50537-0 PMID: 37790327 Free PMC article. Updated. Preprint.
Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities.
Rangel V, Sterrenberg JN, Garawi A, Mezcord V, Folkerts ML, Calderon SE, Garcia YE, Wang J, Soyfer EM, Eng OS, Valerin JB, Tanjasiri SP, Quintero-Rivera F, Seldin MM, Masri S, Frock RL, Fleischman AG, Pannunzio NR. Rangel V, et al. Among authors: quintero rivera f. Nat Commun. 2024 Jul 27;15(1):6331. doi: 10.1038/s41467-024-50537-0. Nat Commun. 2024. PMID: 39068148 Free PMC article.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: quintero rivera f. Am J Hum Genet. 2024 Dec 5;111(12):2693-2706. doi: 10.1016/j.ajhg.2024.10.006. Epub 2024 Nov 8. Am J Hum Genet. 2024. PMID: 39520989
Wiedemann-Steiner Syndrome.
Sheppard SE, Quintero-Rivera F. Sheppard SE, et al. Among authors: quintero rivera f. 2022 May 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 May 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 35617449 Free Books & Documents. Review.
67 results