Evidence map›Paper›PMID 38496558›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Novel syndromic neurodevelopmental disorder caused by

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England and 21 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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, 6 citations in OpenAlex.

No citing paper in PubMed yet.

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

31 authors at 8 institutions in 4 countries.

Vijay S GaneshCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-8709-9351
Kevin RiquinNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.ORCID 0000-0003-1774-0286
Nicolas ChatronInstitut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.ORCID 0000-0003-0538-0981
Kay-Marie LamarDepartments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.ORCID 0000-0001-9572-8384
Miriam C AzizDepartments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Pauline MoninService de génétique, Hospices Civils de Lyon, Lyon, France.ORCID 0000-0002-8813-2053
Melanie O'LearyCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Julia K GoodrichCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-0480-1924
Kiran V GarimellaCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6212-5736
Eleina EnglandCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Esther YoonDepartments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.ORCID 0000-0003-1991-485X
Ben WeisburdCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9898-9109
Francois AguetCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9414-300X
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4342-5012
David R MurdockDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8536-3091
Hongzheng DaiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-0103-876X
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5664-7987
Lisa T EmrickDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4844-9056
Shamika KetkarDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-8799-0729
Undiagnosed Diseases Network
Yael SarusiDepartments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.
Damien SanlavilleInstitut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.ORCID 0000-0001-9939-2849
Saima KayaniDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID 0000-0003-1081-6428
Brian BroadbentCoalition to Cure CHD2, USA.
Bertrand IsidorNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.ORCID 0000-0001-6480-126X
Alisée PengamNantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.
Benjamin CognéNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.
Daniel G MacArthurCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-5771-2290
Igor UlitskyDepartments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.ORCID 0000-0003-0555-6561
Gemma L CarvillDepartments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.ORCID 0000-0003-4945-3628
Anne O'Donnell-LuriaCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Broad Institute · USBaylor College of Medicine · USCentre National de la Recherche Scientifique · FRNorthwestern University · USUniversité Claude Bernard Lyon 1 · FRHospices Civils de Lyon · FRThe University of Texas Southwestern Medical Center · USWeizmann Institute of Science · IL

Funding

Partners Healthcare Training Program in Precision and Genomic MedicineT32HG010464 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI HEIDI L REHM, JORDAN W SMOLLER · 2019 to 2026
$3.1M
NHGRI NIH HHS T32 HG010464
6 · The paper itself

Abstract

Genes encoding long non-coding RNAs (lncRNAs) comprise a large fraction of the human genome, yet haploinsufficiency of a lncRNA has not been shown to cause a Mendelian disease.

Identifiers

PMID38496558
PMCPMC10942497
OpenAlexW4391738123

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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Registered trials

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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.