SynthesisHuman genetics2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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22citing papers in PubMed, 1 pooled it
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What it found
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024).Translational pediatrics · 2026Article
- Nkx2.7 is a conserved regulator of craniofacial development.Nature communications · 2025Article
- Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025Review
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Endoscopic Strip Craniectomy for the Treatment of Single Suture Craniosynostosis.Advances and technical standards in neurosurgery · 2025Review
- Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.Journal of anatomy · 2024Article
- Review
- Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.Scientific reports · 2024Article
- Regulatory elements inGenetics in medicine open · 2024Article
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish.Frontiers in cell and developmental biology · 2024Review
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Craniofacial developmental biology in the single-cell era.Development (Cambridge, England) · 2023Review
- SMAD6 variants in nonsyndromic craniosynostosis.European journal of human genetics : EJHG · 2023Article
- SMAD6-deficiency in human genetic disorders.NPJ genomic medicine · 2022Review
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.Genes · 2022Article
- Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD.PLoS genetics · 2022Article
- The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.Disease models & mechanisms · 2022Review
- The genetic overlap between osteoporosis and craniosynostosis.Frontiers in endocrinology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
46 authors.
Cristina M JusticeGenometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.
Araceli CuellarDepartment of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.
Krithi BalaDepartment of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.
Jeremy A SabourinGenometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.
Michael L CunninghamDepartment of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.
Karen CrawfordMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Julie M PhippsMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Yan ZhouMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Deirdre CilliersOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jo C ByrenCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
David JohnsonCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Steven A WallCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jenny E V MortonWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Peter NoonsBirmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Elizabeth SweeneyDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.
Astrid WeberDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.
Katie E M ReesClinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Louise C WilsonClinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Emil SimeonovNational Institute of Pediatrics, Sofia Medical University, Sofia, Bulgaria.
Radka KanevaMolecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
Nadezhda YanevaNational Genetic Laboratory, University Hospital of Obstetrics and Gynecology "Maichin Dom", Medical University of Sofia, Sofia, Bulgaria.
Kiril GeorgievDepartment of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.
Assen BussarskyDepartment of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.
Craig SendersDepartment of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, USA.
Marike ZwienenbergDepartment of Neurosurgery, University of California Davis, Sacramento, CA, USA.
James BogganDepartment of Neurosurgery, University of California Davis, Sacramento, CA, USA.
Tony RoscioliNeuroscience Research Australia, University of New South Wales, Sydney, Australia.
Gianpiero TamburriniFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Marta BarbaFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Kristin ConwayDepartment of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA.
Val C SheffieldDepartment of Pediatrics, Division of Medical Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
Lawrence BrodyGene and Environment Interaction Section, NHGRI, Bethesda, NIHMD, USA.
James L MillsEpidemiology Branch, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD, USA.
Denise KayDivision of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.
Robert J SickoDivision of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.
Peter H LangloisBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Rachel K TittleDepartment of Nutritional Sciences, University of Texas at Austin, Austin, TX, USA.
Lorenzo D BottoDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mary M JenkinsNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Janine M LaSalleDepartment of Medical Microbiology and Immunology, Genome Center, and MIND Institute, University of California Davis, Davis, CA, USA.
Wanda LattanziFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Andrew O M WilkieMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Alexander F WilsonGenometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu.ORCID http://orcid.org/0000-0001-5393-9984
Simeon A BoyadjievDepartment of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA. sboyd@ucdavis.edu.
National Birth Defects Prevention Study
Funding
Genometric analysis of quantitative traitsZIAHG000200 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI WILSON, ALEXANDER F · 2009 to 2020
$19.8MThe contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6MNONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDYR01DE016886 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A, ROMITTI, PAUL A · 2006 to 2018
$5.5MGenetic Factors in Birth DefectsZIAHD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2023
$5.0MIowa CBDRP: Component A BD-STEPS II CoreU01DD001223 · DD · UNIVERSITY OF IOWA · PI CONWAY, KRISTIN, ROMITTI, PAUL A · 2018 to 2022
$4.3MNew York State Component A: BD-STEPS II CoreU01DD001227 · DD · CENTER OF ENVIRONMENTAL HEALTH · PI HOWLEY, MEREDITH M · 2018 to 2022
$4.2MIowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5MWhole genome sequencing analysis of nonsyndromic craniosynostosisR03DE031061 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A · 2021 to 2022
$317kCDC HHS FOA #DD09-001CDC HHS FOA #DD13-003CDC HHS NOFO #DD18-001CDC HHS PA #02081CDC HHS PA #96043CDC HHS U01 DD001035CDC HHS U01 DD001223EPA EP-D-18-001HSRD VA CDP 13-003National Institute of Child Health and Human Development HHSN27500005NCBDD CDC HHS U01 DD001035NCBDD CDC HHS U01 DD001223NCBDD CDC HHS U01 DD001227NHGRI NIH HHS HHSN268200782096CNICHD NIH HHS HHSN275201100001CNICHD NIH HHS HHSN275201100001GNICHD NIH HHS HHSN275201100001INIDCR NIH HHS DE018277NIDCR NIH HHS R01 DE016886NIDCR NIH HHS R03 DE031061Wellcome Trust 102731Wellcome Trust 102731/Z/13/Z
Abstract
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second midline NCS, metopic NCS (mNCS), using 215 non-Hispanic white case-parent triads. We identified six variants with genome-wide significance (P ≤ 5 × 10
Indexed as
Genetic VariationAllelesBone Morphogenetic Protein 7CraniosynostosesDNA MethylationGenes, ReporterGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansIntronsLinkage DisequilibriumPolymorphism, Single NucleotidePromoter Regions, GeneticRisk FactorsBMP7 protein, humanBone Morphogenetic Protein 7
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