Reporting ABCD1 Variants As Actionable Secondary Findings on Exome and Genome Sequencing

Authors

• 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
• Amy Waldman
• Lisa Emrick
• Florian Eichler
• Adeline Vanderver

Language

English

Publication Date

7-1-2025

Journal

Genetics in Medicine

DOI

10.1016/j.gim.2025.101425

PMID

40202052

PMCID

PMC12308962

PubMedCentral® Posted Date

4-5-2026

PubMedCentral® Full Text Version

Author MSS

Keywords

Leukodystrophy, Newborn screening, Secondary findings, Very-long-chain fatty acids, X-linked adrenoleukodystrophy

Published Open-Access

yes

Recommended Citation

Dominguez Gonzalez, Carlos A; Spinner, Nancy B; Ahrens-Nicklas, Rebecca C; et al., "Reporting ABCD1 Variants As Actionable Secondary Findings on Exome and Genome Sequencing" (2025). Faculty, Staff and Students Publications. 7701.
https://digitalcommons.library.tmc.edu/baylor_docs/7701