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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. 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.
Whole genome analysis for 163 gRNAs in Cas9-edited mice reveals minimal off-target activity.
Peterson KA, Khalouei S, Hanafi N, Wood JA, Lanza DG, Lintott LG, Willis BJ, Seavitt JR, Braun RE, Dickinson ME, White JK, Lloyd KCK, Heaney JD, Murray SA, Ramani A, Nutter LMJ. Peterson KA, et al. Among authors: ramani a. Commun Biol. 2023 Jun 10;6(1):626. doi: 10.1038/s42003-023-04974-0. Commun Biol. 2023. PMID: 37301944 Free PMC article.
Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia.
Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Riparbelli MG, Callaini G, Karch CM, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Gabriel E, et al. Among authors: ramani a. Nat Protoc. 2023 Jun;18(6):1893-1929. doi: 10.1038/s41596-023-00814-x. Epub 2023 May 17. Nat Protoc. 2023. PMID: 37198320 Review.
192 results