Evidence map›Paper›PMID 38234782›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Genetic variants in

Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Miriam S Reuter, Jeffrey R MacDonald, Sangyoon Y Ko, Paul W Frankland and 17 more

Registry-linked trialOpen access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 9 institutions in 3 countries.

Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Clarrisa A BradleyThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jennifer L HoweThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Brett TrostThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Nelson Bautista SalazarThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Carole ShumGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Miriam S ReuterThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jeffrey R MacDonaldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sangyoon Y KoProgram in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.
Paul W FranklandProgram in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.
Leslie GrangerDepartment of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA.
George AnadiotisDepartment of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA.
Verdiana PullanoDepartment of Medical Sciences, University of Torino, Torino, Italy.
Alfredo BruscoDepartment of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.ORCID 0000-0002-8318-7231
Roberto KellerAdult Autism Centre DSM ASL Città di Torino, 10138 Turin, Italy.
Sarah ParisottoCenter for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA.
Helio F PedroCenter for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA.
Laina LuskEpilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pamela Pojomovsky McDonnellEpilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ingo HelbigEpilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-8486-0558
Sureni V MullegamaGeneDx, Gaithersburg, MD, USA.
Undiagnosed Diseases Network
Emilie D DouineDepartment of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA.
Bianca E RussellDepartment of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA.
Stanley F NelsonDepartment of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA.
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.ORCID 0000-0002-8326-1999
Hospital for Sick Children · CAUniversity of Toronto · CAUniversity of California, Los Angeles · USChildren's Hospital of Philadelphia · USHackensack University Medical Center · USRandall Children's Hospital at Legacy Emanuel · USAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITIstituto Giannina Gaslini · ITUniversity of Turin · IT

Funding

UCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936k
NINDS NIH HHS U01 NS134356
6 · The paper itself

Abstract

Autism Spectrum Disorder (ASD) exhibits an ~4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon

Indexed as

AutismAutism spectrum disorderDDX53RNA helicaseXp22.11 locus

Identifiers

PMID38234782
PMCPMC10793518
OpenAlexW4390262884

What OpenQuestion holds

Textmetadata
LicenceCC BY-ND
Read underepoch 390

Registered trials

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.