ArticleGenetics in medicine open2024
Regulatory elements in
Registry-linked trialAbstract read
In one paragraph
Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03025763 (Craniosynostosis Network), which is not on this map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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.
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.
Craniosynostosis Network
Who cites it
4 citing papers in PubMed.
- Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024).Translational pediatrics · 2026Article
- Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank.NPJ digital medicine · 2026Article
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
77 authors.
Paola NicolettiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Samreen ZaferDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Lital MatokAzrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.
Inbar IrronDepartment of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.
Meidva PatrickDepartment of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.
Rotem HaklaiDepartment of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.
John Erol EvangelistaDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Giacomo B MarinoDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Avi Ma'ayanDepartment of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Anshuman SewdaDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY.
Greg HolmesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Sierra R BrittonDepartment of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY.
Won Jun LeeDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Meng WuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Ying RuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Eric ArnaudDepartment of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Lorenzo BottoDepartment of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Lawrence C BrodySocial and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD.
Jo C ByrenCraniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Michele CagganaDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.
Suzan L CarmichaelDepartment of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA.
Deirdre CilliersOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Kristin ConwayDepartment of Epidemiology, University of Iowa, Iowa City, IA.
Karen CrawfordMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
Araceli CuellarDepartment of Pediatrics, University of California, Davis, CA.
Federico Di RoccoHôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
Michael EngelDepartment of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.
Jeffrey FearonThe Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX.
Marcia L FeldkampDepartment of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Richard FinnellCenter for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas.
Sarah FisherBirth Defects Registry, New York State Department of Health, Albany, NY.
Christian FreudlspergerDepartment of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.
Gemma Garcia-FructuosoHospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.
Rhinda HaggeDepartment of Epidemiology, University of Iowa, Iowa City, IA.
Yann HeuzéUniversité de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France.
Raymond J HarshbargerDepartment of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX.
Charlotte HobbsRady Children's Institute for Genomic Medicine, San Diego, CA.
Meredith HowleyBirth Defects Registry, New York State Department of Health, Albany, NY.
Mary M JenkinsDivision of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.
David JohnsonCraniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Cristina M JusticeComputational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.
Alex KaneDepartment of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX.
Denise KayDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.
Arun Kumar GosainDepartment of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.
Peter LangloisDivision of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX.
Laurence Legal-MalletLaboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France.
Angela E LinMedical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA.
James L MillsDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.
Jenny E V MortonBirmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.
Peter NoonsBirmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.
Andrew OlshanDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC.
John PersingDivision of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT.
Julie M PhippsMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
Richard RedettDepartment of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD.
Jennita ReefhuisDivision of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.
Elias RizkDepartment of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA.
Thomas D SamsonDivision of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA.
Gary M ShawDepartment of Pediatrics, Stanford University, Stanford, CA.
Robert SickoDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.
Nataliya SmithNeuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA.
David StaffenbergHansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.
Joan StolerDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
Elizabeth SweeneyDepartment of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom.
Peter J TaubDivision of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.
Andrew T TimberlakeHansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.
Jolanta TopczewskaDepartment of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.
Steven A WallCraniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Alexander F WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.
Louise C WilsonClinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Simeon A BoyadjievDepartment of Pediatrics, University of California, Davis, CA.
Andrew O M WilkieMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
Joan T RichtsmeierDepartment of Anthropology, Pennsylvania State University, University Park, PA.
Ethylin Wang JabsDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Paul A RomittiDepartment of Epidemiology, University of Iowa, Iowa City, IA.
David KarasikAzrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.
Ramon Y BirnbaumDepartment of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.
Inga PeterDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0002-5638-9137
Funding
Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MProject III: Systems Biology of Bone in Coronal Nonsyndromic CraniosynostosisP01HD078233 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DREW, PATRICK JAMES, JABS, ETHYLIN WANG · 2014 to 2019
$7.0MNONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDYR01DE016886 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A, ROMITTI, PAUL A · 2006 to 2018
$5.5MIowa 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
$4.2MCALIFORNIA CENTER OF BD-STEPS II FINDING CAUSES AND PREVENTIVES OF BIRTH DEFECTSU01DD001226 · DD · STANFORD UNIVERSITY · PI SHAW, GARY M · 2018 to 2022
$4.0MCoronal Suture Development in Health and DiseaseR01DE030596 · NIDCR · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HOLMES, GREG PETER, JABS, ETHYLIN WANG · 2021 to 2025
$4.0MTranscriptome Atlases of the Craniofacial SuturesU01DE024448 · NIDCR · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HOLMES, GREG PETER, JABS, ETHYLIN WANG · 2014 to 2018
$3.7MIowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5MCOVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0MBig Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0MEPA EP-D-18-001HSRD VA CDP 13-003NCATS NIH HHS UL1 TR004419NCBDD CDC HHS R01 DD000350NCBDD CDC HHS U01 DD001035NCBDD CDC HHS U01 DD001223NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001227NCBDD CDC HHS U01 DD001302NCBDD CDC HHS U01 DD001304NCBDD CDC HHS U01 DD001307NICHD NIH HHS HHSN275201100001CNICHD NIH HHS HHSN275201100001GNICHD NIH HHS HHSN275201100001INICHD NIH HHS N01 DK073431NICHD NIH HHS P01 HD078233NIDCR NIH HHS R01 DE016886NIDCR NIH HHS R01 DE030596NIDCR NIH HHS R03 DE031061NIDCR NIH HHS U01 DE024448NIEHS NIH HHS P30 ES010126NIH HHS S10 OD026880NIH HHS S10 OD030463Wellcome Trust
Abstract
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model. Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.3 Conclusion: Our findings support a polygenic nature of cNCS risk and functional role of craniofacial enhancers in cNCS susceptibility with potential broader implications for bone health.
Indexed as
Coronal NonsyndromicCraniosynostosisDLX6 DLX5GWASRegulatory elementsSEM1
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
NCT03025763ClinicalTrials.gov
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.