Evidence map›Paper›PMID 38662475›Full record

ArticleBlood advances2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Parvathy Venugopal, Peer Arts, Lucy C Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Swift, David M Ross, Lize F D van Vulpen, Arjan Buijs and 41 more

Abstract read
In one paragraph

Article in Blood advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Origins and timing of somatic variants in the brain.Current opinion in genetics & development · 2026
    Review
  2. Article
  3. Article
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

51 authors.

Parvathy VenugopalDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0002-1057-2438
Peer ArtsDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0002-6742-6239
Lucy C FoxDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.ORCID 0000-0002-3855-8232
Annet SimonsDepartment of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Devendra K HiwaseDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Peter G BardyAdelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
Annette SwiftDepartment of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia.
David M RossCentre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.ORCID 0000-0001-7171-2935
Lize F D van VulpenCenter for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-3242-5524
Arjan BuijsDepartment of Genetics, University Medical Center, Utrecht, The Netherlands.
Kelly L BoltonDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Bartlomiej GettaDepartment of Haematology, Liverpool Hospital, Liverpool, NSW, Australia.ORCID 0000-0003-0196-3397
Eliska FurlongDepartment of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia.ORCID 0000-0002-0254-7486
Tina CarterDepartment of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia.
Ingrid KrapelsDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Marlijn HoeksDepartment of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-3136-3739
Adila Al KindyGenetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Farah Al KindyGenetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Sonja de MunnikDepartment of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Pamela EvansChildren's Health Ireland at Crumlin, Dublin, Ireland.
Mahalia S B FrankDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Adam M BournazosKids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.ORCID 0000-0002-6464-4548
Sandra T CooperKids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.ORCID 0000-0002-7314-5097
Thuong Thi HaDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Matilda R JacksonDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0001-7547-7653
Luis Arriola-MartinezDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0001-9806-0105
Kerry PhillipsAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Yvonne BrennanRoyal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.ORCID 0000-0002-8670-4070
Madhura BakshiDepartment of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.
Karen AmblerDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Song GaoDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Karin S KassahnDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0002-1662-3355
Rosalie KenyonACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.
Kevin HungRoyal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.ORCID 0009-0001-9354-5864
Milena BabicDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Alan McGovernDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Lesley RawlingsDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Cassandra VakulinDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Lucas DejongDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Rema FathiDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Simon McRaeWestern Haematology and Oncology Clinics, West Perth, WA, Australia.
Nicholas MylesAdelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
Dariusz LadonDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Marjolijn JongmansDepartment of Genetics, University Medical Center, Utrecht, The Netherlands.
Roland P KuiperDepartment of Genetics, University Medical Center, Utrecht, The Netherlands.
Nicola K PoplawskiAdelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.
Pasquale BarbaroDepartment of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia.
Piers BlomberyDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Anna L BrownDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0002-9023-0138
Christopher N HahnDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0001-5105-2554
Hamish S ScottDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.ORCID 0000-0002-5813-631X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Clonal HematopoiesisPhenotypeHumansMutationSyndrome

Identifiers

PMID38662475
PMCPMC11259931

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.