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

64 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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 No abstract available.
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.
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.
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. PMID: 37790327 Free PMC article. Preprint.
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, Bean LJH, Gripp KW, 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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 35617449 Free Books & Documents. Review.
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. Zhao Y, et al. Among authors: quintero rivera f. J Mol Med (Berl). 2021 Nov;99(11):1623-1638. doi: 10.1007/s00109-021-02112-z. Epub 2021 Aug 13. J Mol Med (Berl). 2021. PMID: 34387706 Free PMC article.
Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
Lin I, Afshar Y, Goldstein J, Grossman J, Grody WW, Quintero-Rivera F. Lin I, et al. Among authors: quintero rivera f. Am J Med Genet A. 2021 Oct;185(10):3042-3047. doi: 10.1002/ajmg.a.62346. Epub 2021 Jul 1. Am J Med Genet A. 2021. PMID: 34196458
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: quintero rivera f. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
64 results