Evidence map›Paper›PMID 39502664›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Basic helix-loop-helix transcription factor

Carolyn Le, Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman, Tanju Demirören, Stephanie DiTroia, Delphine Heron, Isabelle Sabatier and 16 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

  • Updated by
    2026
5 · Who and what money

Authors and funding

26 authors.

Carolyn LeDepartment of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.ORCID 0009-0001-1532-7685
Emanuela ArgilliDepartment of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.ORCID 0000-0002-6575-7501
Elizabeth GeorgeDepartment of Radiology and Biomedical Imaging, University of California, San Francisco, California, 94122, USA.
Tuğba KalaycıIstanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.ORCID 0000-0002-9963-5916
Zehra Oya UygunerIstanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.ORCID 0000-0002-2035-4338
Birsen KaramanIstanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.ORCID 0000-0001-8640-0176
Tanju DemirörenYeditepe University, Faculty of Medicine Department, Department of Obstetrics and Gynecology, Istanbul, Turkey.ORCID 0000-0003-4922-0920
Stephanie DiTroiaCenter for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Delphine HeronAssistance Publique-Hôpitaux de Paris Sorbonne Université (Pitié Salpêtrière et Trousseau), Paris, France.
Isabelle SabatierDepartment of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France.
Lance H RodanDivision of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, 02115, USA.ORCID 0000-0002-2392-6688
Katta Mohan GirishaSuma Genomics Private Limited, Manipal, India.ORCID 0000-0002-0139-8239
Periyasamy RadhakrishnanKasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0002-7690-3201
Carol SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.ORCID 0000-0002-7407-7735
Bonnie SullivanDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.ORCID 0000-0002-8317-5003
Emily FlemingDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.
Javeria Raza AlviDepartment of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.ORCID 0000-0002-3452-1862
Tipu SultanDepartment of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.ORCID 0000-0001-9398-2127
Henry HouldenDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0002-2866-7777
Stephanie EfthymiouDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0003-4900-9877
Maria J Guillen SacotoGeneDx, Gaithersburg, Maryland, 20877, USA.
Melanie GoodmanOchsner Health System, New Orleans, Louisiana, 70121, USA.
Lucie PierronSorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho pitaux de Paris, Department of Medical Genetics, Paris, France.
Jean-Madeleine De Sainte-AgatheSorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho pitaux de Paris, Department of Medical Genetics, Paris, France.
Alexandra DurrSorbonne Université, Paris Brain Institute - Institut du Cerveau, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique-Ho pitaux de Paris, Paris, France.
Elliott H SherrDepartment of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.ORCID 0000-0002-4118-5385

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NINDS NIH HHS R01 NS058721Wellcome Trust
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

BHLHE22corpus callosum agenesishelix-loop-helixintellectual disabilityspastic paraplegia

Identifiers

PMID39502664
PMCPMC11537320

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.