Evidence map›Paper›PMID 33446513›Full record

ArticleCold Spring Harbor molecular case studies2021

Identification and characterization of novel

Gabrielle Henslee, Christopher L Williams, Pengfei Liu, Alison A Bertuch

Open access · diamondAbstract read
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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Whole exome sequencing identified two novel mutations ofFrontiers in cell and developmental biology · 2026
    Article
  2. Review
  3. Article
  4. New Insights into Melanoma Tumor Syndromes.JID innovations : skin science from molecules to population health · 2022
    Review
  5. Telomere biology disorders.NPJ genomic medicine · 2021
    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

4 authors at 1 institution in 1 country.

Gabrielle HensleeBaylor College of Medicine, Integrated Molecular and Biomedical Sciences Graduate Program, Houston, Texas 77030, USA.ORCID 0000-0002-7846-7108
Christopher L WilliamsBaylor College of Medicine, Department of Pediatrics, Hematology/Oncology, Houston, Texas 77030, USA.ORCID 0000-0002-9966-5568
Pengfei LiuBaylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas 77030, USA.
Alison A BertuchBaylor College of Medicine, Integrated Molecular and Biomedical Sciences Graduate Program, Houston, Texas 77030, USA.ORCID 0000-0003-1864-8502
Baylor College of Medicine · US

Funding

TRAINING PROGRAM IN CELL AND MOLECULAR BIOLOGYT32GM008231 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN · 1990 to 2019
$7.2M
Molecular Genetics of the Telomere Biology DisordersR01HL131744 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BERTUCH, ALISON A, HOCKEMEYER, DIRK · 2016 to 2025
$4.5M
NHLBI NIH HHS R01 HL131744NIGMS NIH HHS T32 GM008231
6 · The paper itself

Abstract

Telomere biology disorders, largely characterized by telomere lengths below the first centile for age, are caused by variants in genes associated with telomere replication, structure, or function. One of these genes,

Indexed as

B-LymphocytesCell LineChild, PreschoolFemaleGene DeletionGerm CellsHumansLeukoplakia, OralMicrocephalyNailsPedigreeReceptor, EphB2Sequence Analysis, DNASerine ProteasesShelterin ComplexSkin PigmentationACD protein, humanEPHB2 protein, humanReceptor, EphB2Serine ProteasesShelterin ComplexTelomeraseTelomere-Binding Proteinsabnormality of B cell numberbone marrow hypocellularityfingernail dysplasiamicrocephalyoral leukoplakiareticulated skin pigmentationtoenail dysplasia

Identifiers

PMID33446513
PMCPMC7903889
OpenAlexW3122832087

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.