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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. Brnich SE, et al. Among authors: starita lm. Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2. Genome Med. 2019. PMID: 31892348 Free PMC article.
Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.
Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin B, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. Chardon FM, et al. Among authors: starita lm. bioRxiv [Preprint]. 2024 Apr 30:2023.03.28.534017. doi: 10.1101/2023.03.28.534017. bioRxiv. 2024. PMID: 37034704 Free PMC article. Preprint.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Manolio TA, et al. Among authors: starita lm. Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005. Cell. 2017. PMID: 28340351 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.
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.
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J. Findlay GM, et al. Among authors: starita lm. Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12. Nature. 2018. PMID: 30209399 Free PMC article.
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.
104 results