Evidence map›Paper›PMID 36897533›Full record

ArticleHaemophilia : the official journal of the World Federation of Hemophilia2023

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges-Etienne Rivard, Mira Gandhi, Patrick Scott, Alexandre Montpetit, Shu-Huang Chen, KyungHee Park, Catherine Vezina, Jiannis Ragoussis and 4 more

Abstract readLetter
In one paragraph

Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

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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

14 authors.

Somayyeh FahiminiyaMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.ORCID 0000-0002-7538-3355
Spyros OikonomopoulosMcGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Georges-Etienne RivardMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.ORCID 0000-0002-2861-9441
Mira GandhiPacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
Patrick ScottMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
Alexandre MontpetitCentre d'expertise et de Services Génome Québec, Montréal, Québec, Canada.
Shu-Huang ChenMcGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
KyungHee ParkPacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
Catherine VezinaMontreal Children's Hospital, McGill University Health Center, Montréal, Québec, Canada.
Jiannis RagoussisMcGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Claudia M B CarvalhoPacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
Grant A MitchellMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
Jean-Francois SoucyMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
Julie GauthierMolecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.

Funding

Uncovering inversion formation in the human genome and its impact to disease.R01GM132589 · NIGMS · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI FONSECA, CLAUDIA CARVALHO · 2020 to 2024
$3.5M
NIGMS NIH HHS R01 GM132589
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Hemophilia AChromosome InversionChromosome MappingFactor VIIIHumansIntronsMutationFactor VIII

Identifiers

PMID36897533
PMCPMC10861022

What OpenQuestion holds

Textmetadata
LicenceTDM
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.