Evidence map›Paper›PMID 29794985›Full record

ArticleBiology2018

A Rare De Novo

Clemer Abad, Melissa M Cook, Lei Cao, Julie R Jones, Nalini R Rao, Lynn Dukes-Rimsky, Rini Pauly, Cindy Skinner, Yunsheng Wang, Feng Luo and 3 more

Open access · goldAbstract read
In one paragraph

Article in Biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 37% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Retinoic acid in health and disease.Signal transduction and targeted therapy · 2026
    Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. 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

13 authors at 4 institutions in 1 country.

Clemer AbadJohn P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. cabad@med.miami.edu.
Melissa M CookJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. mcook@ggc.org.
Lei CaoJohn P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. LCao@med.miami.edu.
Julie R JonesMolecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. juliejones@ggc.org.
Nalini R RaoJohn P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. n.rao@miami.edu.
Lynn Dukes-RimskyJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. ldrimsky@ggc.org.
Rini PaulyJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. rpauly@ggc.org.
Cindy SkinnerJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. cds11251977@gmail.com.
Yunsheng WangSchool of Computing, Clemson University, Clemson, SC 29634, USA. yunshew@g.clemson.edu.
Feng LuoSchool of Computing, Clemson University, Clemson, SC 29634, USA. luofeng@clemson.edu.
Roger E StevensonJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. res@ggc.org.
Katherina WalzJohn P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. KWalz@med.miami.edu.
Anand K SrivastavaJ. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.
Greenwood Genetic Center · USDr. John T. Macdonald Foundation · USClemson University · USUniversity of Miami · US

Funding

CLONING GENES THAT CAUSE MENTAL RETARDATIONR01HD039331 · NICHD · GREENWOOD GENETIC CENTER · PI SRIVASTAVA, ANAND K · 2000 to 2014
$4.3M
NICHD NIH HHS R01 HD039331
6 · The paper itself

Abstract

Deletions and mutations involving the Retinoic Acid Induced 1 (

Indexed as

autism spectrum disordermutationneurodevelopmental disorderRAI1Smith-Magenis syndrome

Identifiers

PMID29794985
PMCPMC6023015
OpenAlexW2804454727

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.