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Page 1
Defining and Reducing Variant Classification Disparities.
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: starita lm. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
CRaTER enrichment for on-target gene-editing enables generation of variant libraries in hiPSCs.
Friedman CE, Fayer S, Pendyala S, Chien WM, Tran L, Chao L, Mckinstry A, Karbassi E, Fenix AM, Loiben A, Murry CE, Starita LM, Fowler DM, Yang KC. Friedman CE, et al. Among authors: starita lm. bioRxiv [Preprint]. 2023 Jan 26:2023.01.25.525582. doi: 10.1101/2023.01.25.525582. bioRxiv. 2023. Update in: J Mol Cell Cardiol. 2023 Jun;179:60-71. doi: 10.1016/j.yjmcc.2023.03.017. PMID: 36747685 Free PMC article. Updated. Preprint.
An Atlas of Variant Effects to understand the genome at nucleotide resolution.
Fowler DM, Adams DJ, Gloyn AL, Hahn WC, Marks DS, Muffley LA, Neal JT, Roth FP, Rubin AF, Starita LM, Hurles ME. Fowler DM, et al. Among authors: starita lm. Genome Biol. 2023 Jul 3;24(1):147. doi: 10.1186/s13059-023-02986-x. Genome Biol. 2023. PMID: 37394429 Free PMC article.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM. Fayer S, et al. Among authors: starita lm. Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17. Am J Hum Genet. 2021. PMID: 34793697 Free PMC article.
Variant Interpretation: Functional Assays to the Rescue.
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Starita LM, et al. Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014. Am J Hum Genet. 2017. PMID: 28886340 Free PMC article.
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Friedman CE, Fayer S, Pendyala S, Chien WM, Loiben A, Tran L, Chao LS, McKinstry A, Ahmed D, Farris SD, Stempien-Otero A, Jonlin EC, Murry CE, Starita LM, Fowler DM, Yang KC. Friedman CE, et al. Among authors: starita lm. Circ Genom Precis Med. 2024 Apr;17(2):e004377. doi: 10.1161/CIRCGEN.123.004377. Epub 2024 Feb 16. Circ Genom Precis Med. 2024. PMID: 38362799
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: starita lm. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S. Starita LM, et al. Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Genetics. 2015. PMID: 25823446 Free PMC article.
112 results