Molecular basis for phenotypic similarity of genetic disorders.

Vijay Kumar Pounraja, Santhosh Girirajan

Open access · goldAbstract readComment

In one paragraph

Article in Genome medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

0.7field-weighted citation impact, top 24% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in theFrontiers in genetics · 2023
Article

4 · The record

Corrections and comments

Comment on
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.2019

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Vijay Kumar PounrajaBioinformatics and Genomics Program, The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.

Santhosh GirirajanBioinformatics and Genomics Program, The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA. sxg47@psu.edu.ORCID 0000-0003-0598-4945

Pennsylvania State University · US

Funding

Genomic basis of phenotypic variability of genomic disordersR01GM121907 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI GIRIRAJAN, SANTHOSH · 2017 to 2025

$5.2M

Penn State Biomedical Big Data to Knowledge (B2D2K) Training ProgramT32LM012415 · NLM · PENNSYLVANIA STATE UNIVERSITY, THE · PI BROACH, JAMES R., HONAVAR, VASANT G. · 2016 to 2020

$1.2M

NIGMS NIH HHS GM121907NIGMS NIH HHS R01 GM121907NLM NIH HHS T32 LM012415NLM NIH HHS T32LM012415

6 · The paper itself

Abstract

The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.

Indexed as

Intellectual DisabilitySmith-Magenis SyndromeHumansMuscle HypotoniaMutationPhenotypeTranscription FactorsTCF20 protein, humanTranscription Factors

Identifiers

PMID31014384

DOI10.1186/s13073-019-0641-y

PMCPMC6477710

OpenAlexW2947580960

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.