Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

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.

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.

Who cites it

10 citing papers in PubMed, 11 citations in OpenAlex.

1. From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026
   Review
2. Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.Molecular genetics & genomic medicine · 2024
   Review
3. A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.Genes · 2023
   Article
4. The missing link between genetic association and regulatory function.eLife · 2022
   Article
5. Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.Genes · 2022
   Review
6. Somatic mosaicism inFrontiers in cell and developmental biology · 2022
   Article
7. Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue.Pharmaceuticals (Basel, Switzerland) · 2021
   Review
8. Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.Neurochemistry international · 2021
   Article
9. Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.Frontiers in neuroscience · 2021
   Review
10. Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.Brain : a journal of neurology · 2020
    Article

Corrections and comments

• Commented on by
  Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.2020
• Comment on
  Cohesin complex-associated holoprosencephaly.2019

Authors and funding

2 authors at 1 institution in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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