Evidence map›Paper›PMID 27577878›Full record

ArticleThe Journal of allergy and clinical immunology2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Zeynep H Coban Akdemir, Hans Christian Erichsen, Lisa R Forbes, Shen Gu, Bo Yuan and 83 more

Erratum issuedOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of allergy and clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 161 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
161citing papers in PubMed, 7 pooled it
14.3field-weighted citation impact, top 1% 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

161 citing papers in PubMed, 7 syntheses or guidelines pooled it, 273 citations in OpenAlex.

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  3. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
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  4. Systematic review of mortality and survival rates for APDS.Clinical and experimental medicine · 2024
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101 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

93 authors at 20 institutions in 14 countries.

Asbjørg Stray-PedersenBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Oslo University Hospital, Oslo, Norway. Electronic address: astraype@ous-hf.no.
Hanne Sørmo SorteDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Pubudu SamarakoonDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Tomasz GambinBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
Ivan K ChinnCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Zeynep H Coban AkdemirBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Hans Christian ErichsenDepartment of Pediatrics, Oslo University Hospital, Oslo, Norway.
Lisa R ForbesCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Shen GuBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Bo YuanBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Shalini N JhangianiBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Donna M MuznyBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Olaug Kristin RødningenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Ying ShengDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Sarah K NicholasCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Lenora M NoroskiDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Filiz O SeeborgDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Carla M DavisDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Debra L CanterDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Emily M MaceCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Timothy J VeceDepartment of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Carl E AllenDepartment of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex; Texas Children's Cancer and Hematology Center, Department of Pediatrics, Center for Cell and Gene Therapy, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex.
Harshal A AbhyankarDepartment of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex; Texas Children's Cancer and Hematology Center, Department of Pediatrics, Center for Cell and Gene Therapy, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex.
Philip M BooneBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Christine R BeckBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Wojciech WiszniewskiBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Børre FevangInstitute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Pål AukrustInstitute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Geir E TjønnfjordInstitute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Hematology, Oslo University Hospital, Oslo, Norway.
Tobias Gedde-DahlDepartment of Hematology, Oslo University Hospital, Oslo, Norway.
Henrik Hjorth-HansenDepartment of Hematology, St Olavs Hospital, Trondheim, Norway; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Ingunn DybedalDepartment of Hematology, Oslo University Hospital, Oslo, Norway.
Ingvild NordøyInstitute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Silje F JørgensenSection of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Tore G AbrahamsenDepartment of Pediatrics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Torstein ØverlandDepartment of Pediatrics, Oslo University Hospital, Oslo, Norway.
Anne Grete BechensteenDepartment of Pediatrics, Oslo University Hospital, Oslo, Norway.
Vegard SkogenDepartment of Infectious Diseases, Medical Clinic, University Hospital of North-Norway, Tromsø, Norway.
Liv T N OsnesDepartment of Immunology and Transfusion Medicine, Oslo University Hospital, Oslo, Norway.
Mari Ann KulsethDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Trine E PrescottDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Cecilie F RustadDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Ketil R HeimdalDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
John W BelmontDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Nicholas L RiderCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Javier ChinenDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Tram N CaoCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Eric A SmithDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Tex.
Maria Soledad CaldirolaImmunology Service, Ricardo Gutierrez Children's Hospital, Ciudad Autonoma de Buenos Aires, Buenos Aires, Argentina.
Liliana BezrodnikImmunology Service, Ricardo Gutierrez Children's Hospital, Ciudad Autonoma de Buenos Aires, Buenos Aires, Argentina.
Saul Oswaldo Lugo ReyesImmunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Francisco J Espinosa RosalesImmunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Nina Denisse Guerrero-CursaruUniversidad San Francisco de Quito, Quito, Ecuador.
Luis Alberto PedrozaUniversidad San Francisco de Quito, Quito, Ecuador.
Cecilia M PoliCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Hospital Roberto del Rio, Universidad de Chile, Santiago, Chile.
Jose L FrancoGrupo de Inmunodeficiencias Primarias, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Claudia M Trujillo VargasGrupo de Inmunodeficiencias Primarias, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Juan Carlos Aldave BecerraAllergy and Clinical Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Nicola WrightAlberta Children's Hospital, Calgary, Alberta, Canada.
Thomas B IssekutzDepartment of Pediatrics, Dalhousie University, Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada.
Andrew C IssekutzDepartment of Pediatrics, Dalhousie University, Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada.
Jordan AbbottDepartment of Pediatrics, National Jewish Health, Denver, Colo.
Jason W CaldwellSection of Pulmonary, Critical Care, Allergic and Immunological Diseases, Wake Forest Baptist Medical Center, Medical Center Boulevard, Winston-Salem, NC.
Diana K BayerDepartment of Pediatrics, Division of Pediatric Allergy/Immunology and Pulmonology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Alice Y ChanDepartment of Pediatrics, University of California, San Francisco, Calif.
Alessandro AiutiSan Raffaele Telethon Institute for Gene Therapy (SR-TIGET), and Vita-Salute San Raffaele University, Milan, Italy.
Caterina CancriniUniversity Department of Pediatrics, DPUO, Bambino Gesù Children's Hospital, and Tor Vergata University, Rome, Italy.
Eva HolmbergDepartment of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.
Christina WestDepartment of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden.
Magnus BurstedtDepartment of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.
Ender KaracaBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Gözde YesilBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Medical Genetics, Bezmi Alem Vakif University Faculty of Medicine, Istanbul, Turkey.
Hasibe ArtacDepartment of Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Alaeddin Keykubat Kampusu, Konya, Turkey.
Yavuz BayramBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Mehmed Musa AtikBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Mohammad K EldomeryBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Mohammad S EhlayelDepartment of Pediatrics, Section of Pediatric Allergy and Immunology, Hamad Medical Corporation, Doha, Department of Paediatrics, Weill Cornell Medical College, Ar-Rayyan, Qatar.
Stephen JollesImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Berit FlatøDepartment of Rheumatology, Oslo University Hospital, Oslo, Norway.
Alison A BertuchDepartment of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex.
I Celine HansonCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Victor W ZhangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Lee-Jun WongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Jianhong HuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Magdalena WalkiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Christine M EngDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Eric BoerwinkleBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex; Human Genetics Center, University of Texas School of Public Health, Houston, Tex.
Richard A GibbsBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
William T ShearerDepartment of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Robert LyleDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Jordan S OrangeCenter for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex. Electronic address: orange@bcm.edu.
James R LupskiBaylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address: jlupski@bcm.tmc.edu.
Baylor College of Medicine · USOslo University Hospital · NODalhousie University · CAHospital General de Niños Ricardo Gutierrez · ARUniversidad de Antioquia · COUniversidad San Francisco de Quito · ECUniversity Hospital of Umeå · SEAlberta Children's Hospital · CAAtrium Health Wake Forest Baptist · USBambino Gesù Children's Hospital · ITHospital Nacional Cayetano Heredia · PENational Jewish Health · USNorwegian University of Science and Technology · NOSelçuk University · TRUmeå University · SEUniversity Hospital of North Norway · NOUniversity Hospital of Wales · GBUniversity of California, San Francisco · USUniversity of Iowa · USVita-Salute San Raffaele University · IT

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
GENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7M
Genome analysis to elucidate molecular mechanisms for peripheral neuropathiesK23NS078056 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI WISZNIEWSKI, WOJCIECH KRZYSZTOF · 2012 to 2016
$783k
NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI120989NINDS NIH HHS K23 NS078056
6 · The paper itself

Abstract

backgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.

objectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.

methodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.

resultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.

conclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Indexed as

AdolescentAdultAgedChildChild, PreschoolDNA Copy Number VariationsFemaleGenomicsHigh-Throughput Nucleotide SequencingHumansImmunologic Deficiency SyndromesInfantMaleMiddle AgedYoung Adultcopy number variantsPrimary immunodeficiency diseasewhole-exome sequencing

Identifiers

PMID27577878
PMCPMC5222743
OpenAlexW2490698663

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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.