Evidence map›Paper›PMID 30083362›Full record

ArticleHuman genome variation2018

Independent occurrence of de novo

Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Yuki Ueda, Katsumi Imai, Yukitoshi Takahashi, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 11 citations in OpenAlex.

  1. A recurrent de novoCold Spring Harbor molecular case studies · 2020
    Review
  2. 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

8 authors at 3 institutions in 1 country.

Toshiyuki Yamamoto1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.ORCID 0000-0002-9484-3505
Keiko Yamamoto-Shimojima1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Yuki Ueda3Epilepsy Centre, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Katsumi Imai3Epilepsy Centre, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Yukitoshi Takahashi3Epilepsy Centre, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
Eri Imagawa4Department of Genetics, Yokohama City University, Yokohama, Japan.
Noriko Miyake4Department of Genetics, Yokohama City University, Yokohama, Japan.
Naomichi Matsumoto4Department of Genetics, Yokohama City University, Yokohama, Japan.
National Epilepsy Center · JPYokohama City University · JPTokyo Women's Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of

Identifiers

PMID30083362
PMCPMC6053359
OpenAlexW2883548409

What OpenQuestion holds

Textmetadata
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.