Evidence map›Paper›PMID 31098032›Full record

ArticleHuman genome variation2019

A novel nonsense

Yasutsugu Chinen, Sadao Nakamura, Takuya Kaneshi, Mami Nakayashiro, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Review
  2. International journal of molecular sciences · 2023
    Article
  3. Article
  4. Article
  5. A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  6. Knockout ofInternational journal of molecular sciences · 2020
    Article
  7. 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

8 authors.

Yasutsugu Chinen1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.ORCID 0000-0002-9486-6336
Sadao Nakamura1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
Takuya Kaneshi1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
Mami NakayashiroDepartment of Pediatrics, Okinawa Prefectural Nanbu Medical Center Children's Medical Center, Haebaru, Okinawa Japan.
Kumiko Yanagi3Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Tadashi Kaname3Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.ORCID 0000-0003-0281-9610
Kenji NaritomiOkinawa Nanbu Habilitation and Medical Center, Naha, Japan.
Koichi Nakanishi1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.ORCID 0000-0001-8681-9129

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with

Indexed as

Disease geneticsGenetic counselling

Identifiers

PMID31098032
PMCPMC6513828

What OpenQuestion holds

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LicenceCC BY
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.