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

Abstract Loss of function variants in the NF1 gene cause neurofibromatosis type 1, a genetic disorder characterized by complete penetrance, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is based on patients ascert...

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Bibliographic Details

Published in:	Nature Communications
Main Authors:	Anton Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S. Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna Raper, Trust Odia, Bradley S. Wubbenhorst, Elsa Faulders, Elisabeth M. Schuth, Kate Loranger, Jingwen Zhang, Carly Bess Scalise, Adam ElNaggar, Youbao Sha, Stephanie A. Felker, Jeffrey Weitzel, Staci Kallish, Marylyn D. Ritchie, Penn Medicine BioBank, Katherine L. Nathanson, Theodore G. Drivas
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-04-01
Online Access:	https://doi.org/10.1038/s41467-025-57077-1