ArticlemedRxiv : the preprint server for health sciences2026
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Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors.
Daniel G CalameSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6860-372X
Emma K WienerDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Francesco GavazziDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Anjana SevagamoorthyDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Amy PizzinoDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kaley ArnoldDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Carlos Dominguez GonzalezDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tejas JammihalDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mariko BennettDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laura AdangDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sarah WoidillDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Matthew T WhiteheadDepartment of Radiology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Arastoo VossoughDepartment of Radiology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Russell D'AielloDepartment of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Asako TakanohashiDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Janhavi LeleDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cas SimonsCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Australia.
Rocio RiusCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Australia.
Edward FormainiCentre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Australia.
Kathleen E SullivanDivision of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Milena AndzelmNeuroimmunology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Darius Ebrahimi-FakhariMovement Disorders Program, Department of Neurology & The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Catherine OttenDivision of Rheumatology, Department of Pediatrics, University of Washington, Seattle Children's Hospital, Seattle, WA, USA.
Stephen WongDivision of Rheumatology, Department of Pediatrics, University of Washington, Seattle Children's Hospital, Seattle, WA, USA.
Thomas ReynoldsTufts University School of Medicine, Boston, MA, USA.
Raphael SchiffmannDepartment of Internal Medicine, Texas Christian University, Fort Worth, TX, USA.
Nicole I WolfAmsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, the Netherlands.
Quinten WaisfiszAmsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, the Netherlands.
Jikke-Mien NiermeijerDepartment of Neurology, Elisabeth-TweeSteden Ziekenhuis, Tilburg, the Netherlands.
Danielle DeMarzoSection of Genetics, Department of Pediatrics, The University of Oklahoma College of Medicine, OK, USA.
Moez DawoodHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Mira GandhiSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Jesse M LevineSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Ivan K ChinnDepartment of Pediatrics; Division of Immunology, Allergy, and Retrovirology, Baylor College of Medicine, Houston, TX, USA.
Kristen FisherSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Lisa EmrickSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Chadi Al AlamSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Rauan KaiyrzhanovSection of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Reza MaroofianDepartment of Neuromuscular Diseases, University College London, Institute of Neurology, London, UK.
Henry HouldenDepartment of Neuromuscular Diseases, University College London, Institute of Neurology, London, UK.
Shalini N JhangianiDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Heer H MehtaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Jennifer E PoseyDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
James R LupskiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Ramakrishnan RajagopalanDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Adeline VanderverDivision of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MTechnology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7MPrecision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5MEnhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7MAdaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6MUniversity of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9MCalifornia Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4MAll of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1MNew York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3MSouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8MSouthern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5MIllinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5MNHGRI NIH HHS R01 HG013355NHGRI NIH HHS U01 HG010219NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG003273NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196NINDS NIH HHS K08 NS123552NINDS NIH HHS K12 NS098482NINDS NIH HHS R35 NS105078NINDS NIH HHS U01 NS106845NINDS NIH HHS U54 NS115052NINDS NIH HHS U54 NS148312
Abstract
Purpose: Aicardi-Goutières syndrome (AGS) is a type I interferonopathy presently associated with nine genes. Methods: Genomic data from undiagnosed individuals with suspected AGS were interrogated for Results: We identified 13 cases with ultra-rare heterozygous pLOF or highly damaging missense variants in Conclusion: Our data implicate
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What Socratic holds
Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.