Evidence map›Paper›PMID 32296180›Full record

ArticleNature2020

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Sebastian M Waszak, Giles W Robinson, Brian L Gudenas, Kyle S Smith, Antoine Forget, Marija Kojic, Jesus Garcia-Lopez, Jennifer Hadley, Kayla V Hamilton, Emilie Indersie and 53 more

Open access · greenAbstract read
In one paragraph

Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed
8.1field-weighted citation impact, top 2% 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

94 citing papers in PubMed, 170 citations in OpenAlex.

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  10. Towards a WHO classification of genetic tumour syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
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  19. Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025
    Article
  20. Article

34 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

63 authors at 20 institutions in 11 countries.

Sebastian M Waszak *European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-3042-9521
Giles W Robinson *Department of Oncology, Division of Neuro-Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0001-7441-9486
Brian L GudenasDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
Kyle S SmithDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
Antoine ForgetUniversité Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.
Marija KojicInstitute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-6437-283X
Jesus Garcia-LopezDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
Jennifer HadleyDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0003-1918-747X
Kayla V HamiltonDepartment of Oncology, Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, TN, USA.
Emilie IndersieUniversité Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.
Ivo BuchhalterOmics IT and Data Management Core Facility (W610), German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0003-0764-5832
Jules KerssemakersOmics IT and Data Management Core Facility (W610), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Natalie JägerHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Tanvi SharmaHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-0850-1673
Tobias RauschEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-5773-5620
Marcel KoolHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Dominik SturmHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0003-0250-1696
David T W JonesHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Aksana VasilyevaCancer Center Administration, St Jude Children's Research Hospital, Memphis, TN, USA.
Ruth G TatevossianDepartment of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-1653-3026
Geoffrey NealeHartwell Center, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0003-3776-0858
Bérangère LombardInstitut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France.
Damarys LoewInstitut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France.ORCID http://orcid.org/0000-0002-9111-8842
Joy NakitandweDepartment of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.
Michael RuschDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-5363-1848
Daniel C BowersDivision of Pediatric Hematology-Oncology, University of Texas Southwestern Medical School, Dallas, TX, USA.ORCID http://orcid.org/0000-0002-3947-2481
Anne BendelDepartment of Pediatric Hematology and Oncology, Children's Hospitals and Clinics of Minnesota, Minnesota, MN, USA.
Sonia PartapDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Murali ChintagumpalaTexas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA.
John CrawfordDepartment of Neurosciences, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Nicholas G GottardoDepartment of Paediatric and Adolescent Oncology/Haematology, Perth Children's Hospital and Brain Tumour Research Programme, Telethon Kids Institute, Perth, Western Australia, Australia.
Amy SmithArnold Palmer Hospital Center for Children's Cancer, Orlando, FL, USA.
Christelle DufourGustave Roussy, Université Paris-Saclay, Department of Pediatric and Adolescent Oncology, Villejuif, France.
Stefan RutkowskiDepartment of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Tone EggenThe Cancer Registry of Norway, Majorstuen, Oslo, Norway.
Finn WesenbergDepartment of Research, Cancer Registry of Norway, Institute of Population-Based Cancer Research, Oslo, Norway.
Kristina KjaerheimDepartment of Research, Cancer Registry of Norway, Institute of Population-Based Cancer Research, Oslo, Norway.
Maria FeychtingInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Birgitta LanneringDepartment of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden.
Joachim SchüzSection of Environment and Radiation, International Agency for Research on Cancer (IARC), Lyon, France.
Christoffer JohansenOncology Clinic, Finsen Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Tina V AndersenDepartment of Epidemiology and Public Health, Swiss Tropical and Public Health Institute, University of Basel, Basel, Switzerland.
Martin RöösliSwiss Childhood Cancer Registry, Institute of Social and Preventive Medicine University of Bern, Bern, Switzerland.
Claudia E KuehniSwiss Childhood Cancer Registry, Institute of Social and Preventive Medicine University of Bern, Bern, Switzerland.
Michael GrotzerUniversity Children's Hospital of Zurich, Zurich, Switzerland.
Marc RemkeDepartment of Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany.
Stéphanie PugetDepartment of Pediatric Neurosurgery, Necker Hospital, Université de Paris, Paris, France.
Kristian W PajtlerHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Till MildeHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Olaf WittHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Marina RyzhovaDepartment of Neuropathology, Burdenko Neurosurgical Institute, Moscow, Russia.
Andrey KorshunovClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Brent A OrrDepartment of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0003-0997-4728
David W EllisonDepartment of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.
Laurence BrugieresGustave Roussy, Université Paris-Saclay, Department of Pediatric and Adolescent Oncology, Villejuif, France.
Peter LichterDivision of Molecular Genetics, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center Heidelberg (DKFZ), Heidelberg, Germany.
Kim E NicholsDepartment of Oncology, Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, TN, USA.
Amar GajjarDepartment of Oncology, Division of Neuro-Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.
Brandon J WainwrightInstitute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
Olivier AyraultUniversité Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. jan.korbel@embl.org.ORCID http://orcid.org/0000-0002-2798-3794
Paul A NorthcottDepartment of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA. paul.northcott@stjude.org.ORCID http://orcid.org/0000-0002-1220-5252
Stefan M PfisterHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany. s.pfister@kitz-heidelberg.de.
St. Jude Children's Research Hospital · USGerman Cancer Research Center · DECancer Registry of Norway · NOUniversité Paris-Sud · FREuropean Molecular Biology Laboratory · DEThe University of Queensland · AUUniversité Paris-Saclay · FRUniversité Paris Sciences et Lettres · FRUniversity of Bern · CHArnold Palmer Hospital for Children · USBaylor College of Medicine · USBurdenko Neurosurgery Institute · RUCentre international de recherche sur le cancer · FRChildren’s Minnesota - St. Paul Hospital · USDüsseldorf University Hospital · DEEuropean Bioinformatics Institute · GBKarolinska Institutet · SEStanford University · USSwiss Tropical and Public Health Institute · CHThe Kids Research Institute Australia · AU

Funding

Dissecting the Spectrum, Prevalence, and Molecular Mechanisms of Enhancer Hijacking in MedulloblastomaR01CA232143 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI NORTHCOTT, PAUL · 2018 to 2022
$1.9M
NCI NIH HHS R01 CA232143World Health Organization 001
6 · The paper itself

Abstract

Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children

Indexed as

Germ-Line MutationCerebellar NeoplasmsChildFemaleHumansMaleMedulloblastomaPedigreeRNA, TransferTranscriptional Elongation FactorsElp1 protein, humanRNA, TransferTranscriptional Elongation Factors

Identifiers

PMID32296180
PMCPMC7430762
OpenAlexW3014737712

What OpenQuestion holds

Textmetadata
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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.