Evidence map›Paper›PMID 40202052›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

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

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 and 14 more

Abstract readEditorial
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Carlos A Dominguez GonzalezDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: dominguezc@chop.edu.
Nancy B SpinnerDivision of Genomic Diagnostics, Children's Hospital of Philadelphia, PA; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Rebecca C Ahrens-NicklasDivision of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA.
Lisa R YoungDivision of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Laura A VossDivision of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Sara L ReichertDivision of Genomic Diagnostics, Children's Hospital of Philadelphia, PA.
Daniel J GalloDivision of Genomic Diagnostics, Children's Hospital of Philadelphia, PA.
Julie S CohenMoser Center for Leukodystrophies, Kennedy Krieger Institute, Baltimore, MD.
Joshua L BonkowskyDivision of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, UT.
Stephanie R KellerDivision of Child Neurology, Emory University Department of Pediatrics, Atlanta, GA.
Mariko L BennettDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Amy M PizzinoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Meghan SwantkowskiDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Kaley ArnoldDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Jamie L FraserRare Disease Institute, Division of Genetics and Metabolism and Center for Genetic Medicine Research, Children's National Hospital, Washington, DC.
Felicity J EmersonALD Connect, Middleton, MA.
Kelly MiettunenALD Connect, Middleton, MA.
Ali FatemiMoser Center for Leukodystrophies, Kennedy Krieger Institute, Baltimore, MD.
Keith P Van HarenDepartment of Neurology, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
Laura AdangDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Amy WaldmanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Lisa EmrickDivision of Pediatric Neurology and Developmental Neuroscience at Baylor College of Medicine/Texas Children's Hospital, Houston, TX.
Florian EichlerCenter for Rare Neurological Diseases, Massachusetts General Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.
Adeline VanderverDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI S. Ali Fatemi, Bradley L Schlaggar · 2020 to 2026
$9.9M
NICHD NIH HHS P50 HD103538NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

LeukodystrophyNewborn screeningSecondary findingsVery-long-chain fatty acidsX-linked adrenoleukodystrophy

Identifiers

PMID40202052
PMCPMC12308962

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.