Evidence map›Paper›PMID 31620126›Full record

ArticleFrontiers in immunology2019

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger and 17 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 29% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Emerging phenotypes linked to variants inFrontiers in endocrinology · 2022
    Article
  8. Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021
    Review
  9. Article
  10. MIRAGE Syndrome Caused by aFrontiers in endocrinology · 2021
    Article
  11. Review
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

27 authors at 7 institutions in 1 country.

Renata FormankovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Veronika KanderovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Marketa RackovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Michael SvatonDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Tomas BrdickaInstitute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czechia.
Petr RihaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Petra KeslovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Ester MejstrikovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Marketa ZaliovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Tomas FreibergerMolecular Genetics Laboratory, Center of Cardiovascular Surgery and Transplantation, Brno, Czechia.
Hana GrombirikovaMolecular Genetics Laboratory, Center of Cardiovascular Surgery and Transplantation, Brno, Czechia.
Zuzana ZemanovaCenter of Oncocytogenetics, Institute of Clinical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czechia.
Marcela VlkovaFaculty of Medicine, Masaryk University, Brno, Czechia.
Filip FenclDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Ivana CopovaDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Jiri BronskyDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Petr JabandzievCEITEC, Masaryk University, Brno, Czechia.
Petr SedlacekDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Jana SoukalovaFaculty of Medicine, Masaryk University, Brno, Czechia.
Ondrej ZapletalDepartment of Pediatric Hematology, University Hospital Brno, Brno, Czechia.
Jan StaryDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Jan TrkaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Tomas KalinaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Karolina Skvarova KramarzovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Eva HlavackovaFaculty of Medicine, Masaryk University, Brno, Czechia.
Jiri LitzmanFaculty of Medicine, Masaryk University, Brno, Czechia.
Eva FronkovaDepartment of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.
Charles University · CZUniversity Hospital in Motol · CZUniversity Hospital Brno · CZCentral European Institute of Technology – Masaryk University · CZCzech Academy of Sciences, Institute of Molecular Genetics · CZMasaryk University · CZSt. Anne's University Hospital Brno · CZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the Sterile alpha motif domain containing 9 (

Indexed as

Child, PreschoolCytomegalovirus InfectionsHumansImmunologic Deficiency SyndromesInfantMaleMutationNeutropeniaSmad8 ProteinSmad8 ProteinSMAD9 protein, humancytomegalovirus infectiondysphagiagastrointestinal disorderhematopoietic stem cell transplantationimmunodeficiencyMIRAGEneutropeniaSAMD9

Identifiers

PMID31620126
PMCPMC6759462
OpenAlexW2970000198

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.