Evidence map›Paper›PMID 30733662›Full record

ArticleMolecular syndromology2019

A Novel Mutation of

Nilay Güneş, Emre Taşdemir, Heather Jeffery, Hüseyin Yetik, Pia Ostergaard, Beyhan Tüysüz

Abstract read
In one paragraph

Article in Molecular syndromology, 2019. 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
0.4field-weighted citation impact, top 39% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. 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

6 authors at 3 institutions in 3 countries.

Nilay GüneşDepartment of Pediatric Genetics, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
Emre TaşdemirDepartment of Pediatric Genetics, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
Heather JefferyDepartment of Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
Hüseyin YetikDepartment of Ophthalmology, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
Pia OstergaardDepartment of Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
Beyhan TüysüzDepartment of Pediatric Genetics, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey.
Istanbul University · TRPediatrics and Genetics · USSt George's, University of London · GB

Funding

British Heart Foundation SP/13/5/30288
6 · The paper itself

Abstract

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (

Indexed as

22q11.2 deletionChorioretinal dysplasiaKIF11LymphedemaMCLMRMicrocephaly

Identifiers

PMID30733662
PMCPMC6362857
OpenAlexW2884921055

What OpenQuestion holds

Textmetadata
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.