Evidence map›Paper›PMID 34162668›Full record

ArticleCold Spring Harbor molecular case studies2021

Pathogenic germline

Seth A Brodie, Payal P Khincha, Neelam Giri, Aaron J Bouk, Mia Steinberg, Jieqiong Dai, Lea Jessop, Frank X Donovan, Settara C Chandrasekharappa, Kelvin C de Andrade and 5 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2021. 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
–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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. IKZF-associated inborn errors of immunity.Journal of human immunity · 2025
    Review
  2. Review
  3. Review
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

15 authors at 4 institutions in 1 country.

Seth A Brodie *Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland 20850, USA.
Payal P Khincha *Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Neelam GiriClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Aaron J BoukCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland 20850, USA.
Mia SteinbergCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland 20850, USA.
Jieqiong DaiCancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland 20850, USA.
Lea JessopLaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Frank X DonovanCancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Settara C ChandrasekharappaCancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Kelvin C de AndradeClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Irina MaricDepartment of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Steven R EllisDepartment of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky 40292, USA.
Lisa MirabelloClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Blanche P AlterClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.
Sharon A SavageClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0001-6006-0740
National Institutes of Health · USLeidos (United States) · USNational Institutes of Health Clinical Center · USUniversity of Louisville · US

Funding

POSITIONAL CLONING OF THE MEN1 GENEZIAHG000029 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CHANDRASEKHARAPPA, SETTARA · 2009 to 2025
$13.3M
NCI NIH HHS HHSN261201700004C
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Germ-Line MutationAnemia, Diamond-BlackfanDiseases in TwinsGene Expression RegulationHematopoiesisHumansIkaros Transcription FactorInfantMaleMutation, MissensePedigreeProtein IsoformsProtein StabilityTranscriptomeIkaros Transcription FactorIKZF1 protein, humanProtein Isoformscongenital hypoplastic anemia

Identifiers

PMID34162668
PMCPMC8327879
OpenAlexW3174236480

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.