Evidence map›Paper›PMID 36553660›Full record

ArticleGenes2022

A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.

Federica Esposito, Ana Maria Osiceanu, Melissa Sorosina, Linda Ottoboni, Bryan Bollman, Silvia Santoro, Barbara Bettegazzi, Andrea Zauli, Ferdinando Clarelli, Elisabetta Mascia and 18 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. 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

28 authors at 10 institutions in 4 countries.

Federica EspositoLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Ana Maria OsiceanuLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Melissa SorosinaLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-4376-2550
Linda OttoboniUnit of Neuroimmunology, Institute of Experimental Neurology (INSpe), Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Bryan BollmanDepartment of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0001-6757-041X
Silvia SantoroLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Barbara BettegazziGene Therapy of Neurodegenerative Diseases, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0001-5842-105X
Andrea ZauliLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Ferdinando ClarelliLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Elisabetta MasciaLaboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Andrea CalabriaSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), 20132 Milan, Italy.
Daniele ZacchettiUnit of Cellular Neurophysiology, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-2724-7559
Ruggero CapraMultiple Sclerosis Centre, Spedali Civili di Brescia, 25018 Montichiari, Italy.ORCID 0000-0002-4338-3406
Maurizio FerrariVita-Salute San Raffaele University, 20132 Milan, Italy.
Paolo ProveroCenter for Omics Sciences, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Dejan LazarevicCenter for Omics Sciences, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-4527-290X
Davide CittaroCenter for Omics Sciences, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0003-0384-3700
Paola CarreraUnit of Genomics for Human Disease Diagnosis, Laboratory of Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Nikolaos PatsopoulosDepartment of Neurology, Harvard Institutes of Medicine, Boston, MA 02115, USA.
Daniela TonioloDepartment of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milan, Italy.
A Dessa SadovnickDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Gianvito MartinoUnit of Neuroimmunology, Institute of Experimental Neurology (INSpe), Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Philip L De JagerDepartment of Neurology, Columbia University, New York, NY 10027, USA.
Giancarlo ComiNeurology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Elia StupkaCenter for Omics Sciences, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.ORCID 0000-0002-5612-5940
Laura PiccioDepartment of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0002-8760-109X
Filippo Martinelli BoneschiNeurology Unit, ASST Santi Paolo e Carlo, 20142 Milan, Italy.ORCID 0000-0002-9955-1368
Vita-Salute San Raffaele University · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITSan Raffaele University of Rome · ITUniversity of British Columbia · CAAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITColumbia University · USThe San Raffaele Telethon Institute for Gene Therapy · ITThe University of Sydney · AUUniversity of Milan · ITWashington University in St. Louis · US

Funding

CIHR MOP-137051
6 · The paper itself

Abstract

While the role of common genetic variants in multiple sclerosis (MS) has been elucidated in large genome-wide association studies, the contribution of rare variants to the disease remains unclear. Herein, a whole-genome sequencing study in four affected and four healthy relatives of a consanguineous Italian family identified a novel missense c.1801T > C (p.S601P) variant in the

Indexed as

Genetic Predisposition to DiseaseMultiple SclerosisConsanguinityGenome-Wide Association StudyHumansWhole Genome Sequencingmultiple sclerosisneurologyrare variantssequencing

Identifiers

PMID36553660
PMCPMC9777893
OpenAlexW4311883815

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.