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Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing.
Mighell TL, Nishida A, O'Connell BL, Miller CV, Grindstaff S, Thornton CA, Adey AC, Doherty D, O'Roak BJ. Mighell TL, et al. Among authors: miller cv. CRISPR J. 2022 Aug;5(4):548-557. doi: 10.1089/crispr.2021.0140. Epub 2022 Jul 12. CRISPR J. 2022. PMID: 35833801 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: miller cv. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
26 results