Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

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Date: June 26, 2023
Authors:
Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zoe Powis, Grace M Hobson, Susan Kirwin, Bryan Krock, Hane Lee, Joshua L. Deignan, Maggie A Westemeyer, Ryan L Subaran, Isabelle Thiffault, Ellen A Tsai, Terry Fang, Guy Helman, Adeline Vanderver
Journal: American journal of medical genetics
Journal Volume: 182