Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

IF 6.6 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2025-04-05 DOI:10.1016/j.gim.2025.101425

Carlos A. Dominguez Gonzalez , Nancy B. Spinner , Rebecca C. Ahrens-Nicklas , Lisa R. Young , Laura A. Voss , Sara L. Reichert , Daniel J. Gallo , Julie S. Cohen , Joshua L. Bonkowsky , Stephanie R. Keller , Mariko L. Bennett , Amy M. Pizzino , Meghan Swantkowski , Kaley Arnold , Jamie L. Fraser , Felicity J. Emerson , Kelly Miettunen , Ali Fatemi , Keith P. Van Haren , Laura Adang , Adeline Vanderver

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报告ABCD1变异作为可操作的外显子组和基因组测序的次要发现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.