Evidence map›Paper›PMID 29719267›Full record

ArticleCell reports2018

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.

Andrea Wilderman, Jennifer VanOudenhove, Jeffrey Kron, James P Noonan, Justin Cotney

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
97citing papers in PubMed, 2 pooled it
13.0field-weighted citation impact, top 1% 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

97 citing papers in PubMed, 2 syntheses or guidelines pooled it, 148 citations in OpenAlex.

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  17. Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025
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37 more citing papers are in PubMed but not listed here.

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

5 authors at 3 institutions in 1 country.

Andrea WildermanGraduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT 06030, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT 06030, USA.
Jennifer VanOudenhoveDepartment of Genetics and Genome Sciences, UConn Health, Farmington, CT 06030, USA.
Jeffrey KronDepartment of Genetics and Genome Sciences, UConn Health, Farmington, CT 06030, USA.
James P NoonanDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Kavli Institute for Neuroscience, Yale University, New Haven, CT 06520, USA.
Justin CotneyDepartment of Genetics and Genome Sciences, UConn Health, Farmington, CT 06030, USA; Institute for Systems Genomics, University of Connecticut, Storrs, CT 06269, USA. Electronic address: cotney@uchc.edu.
UConn Health · USUniversity of Connecticut · USYale University · US

Funding

Identifying enhancers with human-specific developmental functionsR01GM094780 · NIGMS · YALE UNIVERSITY · PI NOONAN, JAMES P · 2010 to 2018
$5.8M
Identification of human orofacial enhancers and their role in orofacial cleftsR00DE024194 · NIDCR · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI COTNEY, JUSTIN LEE · 2015 to 2017
$732k
Identification of human orofacial enhancers and their role in orofacial cleftsK99DE024194 · NIDCR · YALE UNIVERSITY · PI COTNEY, JUSTIN LEE · 2014 to 2014
$109k
Medical Research Council G0700089NIDCR NIH HHS K99 DE024194NIDCR NIH HHS R00 DE024194NIGMS NIH HHS R01 GM094780
6 · The paper itself

Abstract

Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the human face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. These data are provided in easily accessible formats for both craniofacial researchers and clinicians to aid future experimental design and interpretation of noncoding variation in those affected by craniofacial abnormalities.

Indexed as

Databases, Nucleic AcidEmbryo, MammalianEmbryonic DevelopmentEpigenesis, GeneticFaceGene Expression Regulation, DevelopmentalHumansSkullchromatin statecis-regulatory sequencecleft lipcleft palatecraniofacialdevelopmentdevelopmental enhancerepigenomicsgenomicsorofacial cleftingtranscriptional enhancer

Identifiers

PMID29719267
PMCPMC5965702
OpenAlexW2801693550

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.