Evidence map›Paper›PMID 29784638›Full record

ArticleBlood2018

Syndromic congenital myelofibrosis associated with a loss-of-function variant in

Pilar L Magoulas, Oleg A Shchelochkov, Matthew N Bainbridge, Shay Ben-Shachar, Svetlana Yatsenko, Lorraine Potocki, Richard A Lewis, Charles Searby, Andrea N Marcogliese, M Tarek Elghetany and 10 more

Abstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Pilar L MagoulasTexas Children's Hospital, Houston, TX.
Oleg A ShchelochkovMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Matthew N BainbridgeRady Children's Institute for Genomic Medicine, San Diego, CA.
Shay Ben-ShacharGenetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Svetlana YatsenkoDepartment of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.
Lorraine PotockiTexas Children's Hospital, Houston, TX.
Richard A LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.ORCID 0000-0002-6644-6385
Charles SearbyUniversity of Iowa, Iowa City, IA.
Andrea N MarcoglieseTexas Children's Hospital, Houston, TX.
M Tarek ElghetanyTexas Children's Hospital, Houston, TX.
Gladys ZapataDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Paula P HernándezDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Manasi GadkariLaboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Derek EinhausLaboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Donna M MuznyThe Human Genome Sequencing Center and.
Richard A GibbsThe Human Genome Sequencing Center and.
Alison A BertuchTexas Children's Hospital, Houston, TX.ORCID 0000-0003-1864-8502
Daryl A ScottTexas Children's Hospital, Houston, TX.
Silvia CorveraProgram in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA.
Luis M FrancoLaboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-0540-5942

Funding

Adipose Tissue Angiogenesis and Metabolic DiseaseR01DK089101 · NIDDK · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI CORVERA, SILVIA · 2011 to 2024
$5.7M
Integrative genomic analysis of the human response to glucocorticoidsZIAAI001191 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI FRANCO, LUIS M · 2014 to 2019
$2.3M
NIDDK NIH HHS R01 DK089101
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleBone Marrow TransplantationChildConsanguinityFatal OutcomeFemaleGonadal Dysgenesis, 46,XYHematopoietic Stem Cell TransplantationHumansInfantIntellectual DisabilityMalePedigreePhenotypePrimary MyelofibrosisSyndromeRBSN protein, humanVesicular Transport Proteins

Identifiers

PMID29784638
PMCPMC6085991

What OpenQuestion holds

Textmetadata
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.