A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD; Penn Medicine BioBank; Nathanson KL, Drivas TG. Nat Commun. 2025 Apr 1;16(1):3121 PMID: 40169570