Evidence map›Paper›PMID 35772801›Full record

ArticleAJNR. American journal of neuroradiology2022

Brain Abnormalities in Patients with Germline Variants in

C A P F Alves, O Sherbini, F D'Arco, D Steel, M A Kurian, F C Radio, G B Ferrero, D Carli, M Tartaglia, T B Balci and 19 more

Open access · hybridAbstract read
In one paragraph

Article in AJNR. American journal of neuroradiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 45% of its field
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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026
    Article
  2. Article
  3. Article
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

29 authors at 20 institutions in 9 countries.

C A P F AlvesFrom the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.ORCID 0000-0001-5877-9086
O SherbiniDepartment of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
F D'ArcoDepartments of Radiology (F.D.).
D SteelNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0003-0942-7943
M A KurianNeurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0003-3529-5075
F C RadioGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
G B FerreroDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.ORCID 0000-0002-3793-5788
D CarliDepartment of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.ORCID 0000-0001-5690-6504
M TartagliaGenetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.ORCID 0000-0001-7736-9672
T B BalciMedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.ORCID 0000-0002-5409-8387
N N Powell-HamiltonDivision of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.
S A Schrier VerganoDivision of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.
H ReutterDivision of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.
J HoefeleInstitute of Human Genetics (J.H., R.G.).ORCID 0000-0002-7917-7129
R GünthnerInstitute of Human Genetics (J.H., R.G.).
E R RoederDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.ORCID 0000-0002-8439-657X
R O LittlejohnDepartment of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.ORCID 0000-0001-8000-0446
D LesselInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0003-4496-244X
S LüttgenInstitute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-9902-7697
C KentrosDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.ORCID 0000-0001-6316-6997
K Anyane-YeboaDivision of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.ORCID 0000-0002-4977-9719
C B CatarinoFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.ORCID 0000-0002-6528-7570
S Mercimek-AndrewsDepartment of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.ORCID 0000-0001-8396-6764
J DeneckeDepartment of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.ORCID 0000-0002-8228-4013
M J LyonsGreenwood Genetic Center (M.J.L.), Greenwood, South Carolina.ORCID 0000-0002-8644-5507
T KlopstockFriedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.ORCID 0000-0003-2805-4652
E J BhojDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.).ORCID 0000-0001-5748-3507
L BryantDepartment of Radiology, Division of Human Genetics (E.J.B., L.B.).ORCID 0000-0001-8483-8940
A VanderverDepartment of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.ORCID 0000-0002-6290-6751
Universität Hamburg · DEBambino Gesù Children's Hospital · ITBaylor College of Medicine · USCenter for Human Genetics · USDepartment of Public Health · USGreat Ormond Street Hospital · GBNewYork–Presbyterian Hospital · USAlfred I. duPont Hospital for Children · USChildren's Hospital of Philadelphia · USEastern Virginia Medical School · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEFriedrich Baur Stiftung · DEGerman Center for Neurodegenerative Diseases · DEGreenwood Genetic Center · USInstitute of Human Genetics · PLResearch Institute of Radiology · BYTUM Klinikum · DEUniversidade do Estado de Santa Catarina · BRUniversity of Alberta · CAUniversity of Pennsylvania · US

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

background and purposePathogenic somatic variants affecting the genes MATERIALS AND

methodsIn this retrospective study, we included individuals with proved

resultsEighteen individuals (10 males, 56%) with

conclusionsImaging phenotypes in germline

Indexed as

Brain NeoplasmsHistonesMalformations of Cortical DevelopmentNeurodevelopmental DisordersBrainChildGerm CellsHumansMaleRetrospective StudiesH3-3A protein, humanHistones

Identifiers

PMID35772801
PMCPMC9262070
OpenAlexW4283728034

What OpenQuestion holds

Textmetadata
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.