ArticleFrontiers in immunology2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Frontiers in immunology, 2019. 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 38 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 2 pooled it
3.7field-weighted citation impact, top 6% of its field
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
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.Frontiers in immunology · 2026Pooled it
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.Italian journal of pediatrics · 2026Article
- Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.Immunity, inflammation and disease · 2025Article
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- Article
- Metagenomic detection of protozoan parasites on leafy greens aided by a rapid and efficient DNA extraction protocol.Frontiers in microbiology · 2025Article
- Case Report: Anti-interferon-γ autoantibodies in an adolescent with disseminatedFrontiers in pediatrics · 2025Article
- The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.Immunogenetics · 2024Article
- Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.Journal of clinical immunology · 2024Article
- Article
- Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of theInternational journal of molecular sciences · 2024Article
- The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.Journal of clinical immunology · 2024Article
- Genetic screening in a Brazilian cohort with inborn errors of immunity.BMC genomic data · 2023Article
- Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity.BMC genomic data · 2023Article
- The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.Journal of clinical medicine · 2023Article
- FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.Journal of clinical immunology · 2023Article
- Hyperinsulinemic Hypoglycemia Associated with a CaInternational journal of molecular sciences · 2022Article
- Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.European journal of immunology · 2022Article
- Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.Scientific reports · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
40 authors at 15 institutions in 1 country.
Cristina CifaldiUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Immacolata BrigidaSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Federica BarzaghiSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Matteo ZoccolilloSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Valentina FerradiniDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Davide PetriconeDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Maria Pia CicaleseSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Dejan LazarevicCenter for Translational Genomics and BioInformatics, San Raffaele Scientific Institute, Milan, Italy.
Davide CittaroCenter for Translational Genomics and BioInformatics, San Raffaele Scientific Institute, Milan, Italy.
Maryam OmraniSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Enrico AttardiUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Francesca ContiUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Alessia ScarselliUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Maria ChiriacoUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Silvia Di CesareUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Francesco LicciardiDivision of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.
Montin DavideDivision of Immunology and Rheumatology, Department of Paediatric Infectious Diseases, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.
Francesca FerruaSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Clementina CanessaPediatric Immunology, Department of Health Sciences, University of Florence, Florence, Italy.
Claudio PignataDepartment of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Silvia GilianiDepartment of Molecular and Translational Medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy.
Simona FerrariUnit of Medical Genetics, St. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
Georgia FousteriDivision of Immunology Transplantation and Infectious Diseases (DITID), Diabetes Research Institute (DRI) IRCCS San Raffaele Scientific Institute, Milan, Italy.
Graziano BareraPediatric Department, San Raffaele Scientific Institute, Milan, Italy.
Pietro MerliDepartment of Onco-Hematology and Cell and Gene Therapy, Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Paolo PalmaUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Simone CesaroPaediatric Hematology-Oncology, "Ospedale della Donna e del Bambino", Verona, Italy.
Marco GattornoPediatric and Rheumatology Unit, Giannina Gaslini Institute, Genoa, Italy.
Antonio TrizzinoDepartment of Pediatric Hematology and Oncology, "ARNAS Civico Di Cristina Benfratelli" Hospital, Palermo, Italy.
Viviana MoscheseDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Loredana ChiniDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Anna VillaMilan Unit, National Research Council (CNR) Institute for Genetic and Biomedical Research (IRGB), Milan, Italy.
Chiara AzzariPediatric Immunology, Department of Health Sciences, University of Florence, Florence, Italy.
Andrea FinocchiUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Franco LocatelliDepartment of Pediatric Hematology and Oncology, Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, University of Rome La Sapienza, Rome, Italy.
Paolo RossiUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Federica SangiuoloDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Alessandro AiutiSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Caterina CancriniUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Gigliola Di MatteoUnit of Immune and Infectious Diseases, University Department of Pediatrics (DPUO), Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, Rome, Italy.
Istituti di Ricovero e Cura a Carattere Scientifico · ITBambino Gesù Children's Hospital · ITUniversity of Rome Tor Vergata · ITIstituto di Ricovero e Cura a Carattere Scientifico San RaffaeleThe San Raffaele Telethon Institute for Gene Therapy · ITUniversity of Turin · ITAzienda di Rilievo Nazionale ed Alta Specializzazione · ITHumanitas University · ITIstituto Giannina Gaslini · ITMeyer Children's Hospital · ITPoliclinico S.Orsola-Malpighi · ITSan Raffaele University of Rome · ITUniversity of Brescia · ITUniversity of Florence · ITUniversity of Naples Federico II · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
AdolescentChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornItalyMalePhenotypePrimary Immunodeficiency Diseasesgene panelsHaloplexIon TorrentNext Generation Sequencingprimary immunodeficiencies
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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.