Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
作者信息
Dominguez Gonzalez Carlos A, Spinner Nancy B, Ahrens-Nicklas Rebecca C, Young Lisa R, Voss Laura A, Reichert Sara L, Gallo Daniel J, Cohen Julie S, Bonkowsky Joshua L, Keller Stephanie R, Bennett Mariko L, Pizzino Amy M, Swantkowski Meghan, Arnold Kaley, Fraser Jamie L, Emerson Felicity J, Miettunen Kelly, Fatemi Ali, Van Haren Keith P, Adang Laura, Waldman Amy, Emrick Lisa, Eichler Florian, Vanderver Adeline
机构信息
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, PA; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
出版信息
Genet Med. 2025 Jul;27(7):101425. doi: 10.1016/j.gim.2025.101425. Epub 2025 Apr 5.
Abstract
摘要
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ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).ACMG SF v3.2 临床外显子组和基因组测序中报告次要发现的列表：美国医学遗传学与基因组学学会 (ACMG) 的政策声明。
Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22.
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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.意大利X连锁肾上腺脑白质营养不良的新生儿筛查：诊断算法与疾病监测
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.国际肾上腺脑白质营养不良患者诊断与管理建议：基于共识的方法。
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