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Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

https://doi.org/10.1371/journal.pone.0176566
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32/32 checkable references clean · checked 2026-07-26

Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.

2 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.

The 32 checked references that resolve
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Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape
resolves10.1371/journal.pcbi.1003375
Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration
resolves10.1371/journal.pgen.1004224
Modeling 3D Facial Shape from DNA
resolves10.1016/j.ajhg.2011.12.021
Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position
resolves10.1371/journal.pgen.1002932
A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
resolves10.1038/ncomms11616
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
resolves10.1371/journal.pgen.1006149
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
resolves10.1371/journal.pgen.1006174
Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape
resolves10.1016/j.archoralbio.2006.03.009
Correlated variation between the lateral basicranium and the face: A geometric morphometric study in different human groups
resolves10.1111/j.1525-142X.2006.00139.x
Epigenetic interactions and the structure of phenotypic variation in the cranium
resolves10.1002/dvdy.22729
Epigenetic integration of the developing brain and face
resolves10.1186/1746-160X-6-18
3D digital stereophotogrammetry: a practical guide to facial image acquisition
resolves10.1007/BF02289447
A Rationale and Test for the Number of Factors in Factor Analysis
resolves10.1002/gepi.20516
Quality control and quality assurance in genotypic data for genome‐wide association studies
resolves10.1038/nature11632
An integrated map of genetic variation from 1,092 human genomes
resolves10.1038/nmeth.2307
Improved whole-chromosome phasing for disease and population genetic studies
resolves10.1371/journal.pgen.1000529
A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
resolves10.1534/g3.111.001198
Genotype Imputation with Thousands of Genomes
resolves10.1086/519795
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
resolves10.1073/pnas.0402760101
The extracellular matrix gene <i>Frem1</i> is essential for the normal adhesion of the embryonic epidermis
resolves10.1016/j.ajhg.2009.08.010
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
resolves10.1371/journal.pgen.1002278
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
resolves10.1038/nrg2933
Cleft lip and palate: understanding genetic and environmental influences
resolves10.1136/jmg.2011.089631
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in <i>FREM1</i>
resolves10.1038/33416
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
resolves10.1136/annrheumdis-2012-201551
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects
resolves10.1093/hmg/ddu731
Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels
resolves10.1038/nature02326
Susceptibility to leprosy is associated with PARK2 and PACRG
resolves10.1093/nar/gkh029
GenePaint.org: an atlas of gene expression patterns in the mouse embryo
resolves10.1038/78124
Control of neurulation by the nucleosome assembly protein-1–like 2
resolves10.1038/nature19356
High-throughput discovery of novel developmental phenotypes
resolves10.1093/hmg/ddv180
Kabuki syndrome genes<i>KMT2D</i>and<i>KDM6A</i>: functional analyses demonstrate critical roles in craniofacial, heart and brain development
The 2 references without a DOI — listed, not checked
no DOI — not checkedThe 3D Facial Norms Database: Part 1. A web-based craniofacial anthropometric and image repository for the clinical and research community
no DOI — not checkedWinEDMA: Software for Euclidean Distance Matrix Analysis
What this badge says. CiteStamped means the CHECKABLE references of this work were clean at the dated check: each resolved to a known work in a public registry, and none carried a retraction notice at that time. It says nothing about the quality, findings, or importance of the work itself, and nothing about references deposited without a DOI.

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