ArticleScience advances2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Science advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
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- Article
- Article
- NInternational journal of biological sciences · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
51 authors at 20 institutions in 8 countries.
Victoria PattersonPrinceton University, Princeton, NJ 08544, USA.ORCID 0000-0002-7155-9288
Farid UllahStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0001-8108-8347
Laura BryantChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8483-8940
John N GriffinUniversity of East Anglia, Norwich Research Park, Norwich NR4 7TJ, UK.
Alpa SidhuThe Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.ORCID 0000-0002-8980-5029
Sheila SaligananAmbry Genetics, 1 Enterprise, Aliso Viejo, CA 92656, USA.
Mackenzie BlaileUniversity of Colorado Anschutz Medical Campus, 13001 E 17th Pl, Aurora, CO 80045, USA.
Margarita S SaenzUniversity of Colorado Anschutz Medical Campus, 13001 E 17th Pl, Aurora, CO 80045, USA.ORCID 0000-0002-8782-8059
Rosemarie SmithMaine Medical Center, 22 Bramhall St, Portland, ME 04102, USA.
Sara EllingwoodMaine Medical Center, 22 Bramhall St, Portland, ME 04102, USA.
Dorothy K GrangeSt. Louis Children's Hospital, Washington University School of Medicine, 660 S Euclid Ave, St. Louis, MO 63110, USA.ORCID 0000-0001-7425-6322
Xuyun HuBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID 0000-0003-4345-5024
Maimaiti MireguliFirst Affiliated Hospital of Xinjiang Medical University, Department of Pediatrics, Xinjiang Uygur Autonomous Region, China.
Yanfei LuoFirst Affiliated Hospital of Xinjiang Medical University, Department of Pediatrics, Xinjiang Uygur Autonomous Region, China.
Yiping ShenBoston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-5820-0839
Maureen MulhernColumbia University Irving Medical Center, 630 W. 168th St, New York, NY 10032, USA.ORCID 0000-0001-8642-4741
Elaine ZackaiChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Alyssa RitterChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4735-5223
Kosaki IzumiChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Julia HoefeleInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-7917-7129
Matias WagnerInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-4454-8823
Korbinian M RiedhammerInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-7503-5801
Barbara SeitzKfH Pediatric Kidney Center Munich, Munich, Germany.
Nathaniel H RobinUniversity of Alabama at Birmingham, 1720 University Blvd, Birmingham, AL 35233, USA.ORCID 0000-0001-9995-547X
Dana GoodloeUniversity of Alabama at Birmingham, 1720 University Blvd, Birmingham, AL 35233, USA.ORCID 0000-0001-9244-6218
Cyril MignotAPHP-Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.
Boris KerenClinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.ORCID 0000-0001-6172-8247
Helen CoxClinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.
Joanna JarvisClinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.
Maja HempelUniversity Hospital Hamburg-Eppendorf, Martinistraße 52, 20251 Hamburg, Germany.
Cynthia Forster GibsonTrillium Health Partners, Mississauga, ON L5B 2V2, Canada.
Frederic Tran Mau-ThemUniversity of Bourgogne, Dijon, France.ORCID 0000-0002-3795-9456
Antonio VitobelloUMR1231 GAD, Inserm, Université Bourgogne-Franche-Comté, Dijon, France.ORCID 0000-0003-3717-8374
Ange-Line BruelUniversity of Bourgogne, Dijon, France.
Arthur SorlinUniversity of Bourgogne, Dijon, France.
Sarju MehtaAddenbrooke's Hospital, Cambridge, UK.ORCID 0000-0003-0446-3435
F Lucy RaymondUniversity of Cambridge, Cambridge, UK.
Kelly GilmoreDepartment of Ob/Gyn, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0002-9125-8714
Bradford C PowellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0002-2842-8645
Karen WeckDepartment of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0002-8516-333X
Chumei LiMcMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.
Anneke T Vulto-van SilfhoutRadboudumc Nijmegen, 6500 HB Nijmegen, Netherlands.
Thea GiacominiUnit of Child Neuropsychiatry, University of Genova, EpiCARE Network, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Maria Margherita MancardiUnit of Child Neuropsychiatry, EpiCARE Network, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Andrea AccogliDivision of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
Vincenzo SalpietroDepartment of Biotechnological and Applied Clinical Science, University of L'Aquila, 67100 L'Aquila, Italy.
Federico ZaraDepartment of Biotechnological and Applied Clinical Science, University of L'Aquila, 67100 L'Aquila, Italy.
Neeta L VoraDepartment of Ob/Gyn, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0002-2504-9455
Erica E DavisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-2412-8397
Rebecca BurdinePrinceton University, Princeton, NJ 08544, USA.ORCID 0000-0001-6620-5015
Elizabeth BhojChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-5748-3507
Children's Hospital of Philadelphia · USUniversity of North Carolina at Chapel Hill · USBirmingham Women’s and Children’s NHS Foundation Trust · GBTUM Klinikum · DEUniversité de Bourgogne · FRIstituto Giannina Gaslini · ITLurie Children's Hospital · USMaine Medical Center · USPrinceton University · USUniversity of Alabama at Birmingham · USUniversity of Colorado Anschutz Medical Campus · USUniversity of L'Aquila · ITXinjiang Medical University · CNAddenbrooke's Hospital · GBAmbry Genetics (United States) · USBoston Children's Hospital · USCapital Medical University · CNColumbia University Irving Medical Center · USInserm · FRKatholische Stiftungshochschule München · DE
Funding
Support for QA/QC for Prior Approval ProcessUL1TR002553 · NCATS · DUKE UNIVERSITY · PI LI, JENNIFER S, MCNAMARA, JAMES O. · 2018 to 2023
$58.5MNorth Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7MPrenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5MFunctional Dissection of CNVs in Neurodevelopmental TraitsR01MH106826 · NIMH · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2015 to 2025
$4.6MUnmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic EraR01HD105868 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2021 to 2025
$3.4MSystems biology of MAPK signaling in early drosophila embryoR01GM086537 · NIGMS · PRINCETON UNIVERSITY · PI BURDINE, REBECCA D., GOLDSMITH, ELIZABETH J. · 2011 to 2018
$3.1MCilia function in spine development and diseaseR01AR071486 · NIAMS · PRINCETON UNIVERSITY · PI BURDINE, REBECCA D. · 2017 to 2021
$2.1MEarly Genomic DiagnosisK23HD088742 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2017 to 2020
$685kGenetic and Functional Dissection of Congenital Anomalies of the BrainR21TR002770 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DAVIS, ERICA ELLEN, VORA, NEETA L · 2019 to 2020
$449kRapid Quantitative Analysis of Genomic Variants Underlying CHD in RASopathiesR03HD092694 · NICHD · PRINCETON UNIVERSITY · PI BURDINE, REBECCA D. · 2017 to 2018
$264kNCATS NIH HHS R21 TR002770NCATS NIH HHS UL1 TR002553NHGRI NIH HHS U01 HG006487NIAMS NIH HHS R01 AR071486NICHD NIH HHS K23 HD088742NICHD NIH HHS R01 HD055651NICHD NIH HHS R01 HD105868NICHD NIH HHS R03 HD092694NIGMS NIH HHS R01 GM086537NIMH NIH HHS R01 MH106826
Abstract
We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in
Indexed as
Signal TransductionZebrafishAnimalsHumansIntracellular Signaling Peptides and ProteinsProtein Serine-Threonine KinasesIntracellular Signaling Peptides and ProteinsMAP4K4 protein, humanProtein Serine-Threonine Kinases
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
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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.