Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing 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
9 citing papers in PubMed, 17 citations in OpenAlex.
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany.ORCID 0000-0002-5371-5320
Michael NothnagelInstitute of Medical Informatics and Statistics (IMIS), Christian-Albrechts University, 24105 Kiel, Germany.ORCID 0000-0001-8305-7114
Michael KrawczakInstitute of Medical Informatics and Statistics (IMIS), Christian-Albrechts University, 24105 Kiel, Germany.ORCID 0000-0003-2603-1502
Christian GilissenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525, The Netherlands.ORCID 0000-0003-1693-9699
Joris A VeltmanDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525, The Netherlands.ORCID 0000-0002-3218-8250
Michael ForsterInstitute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University, 24105 Kiel, Germany.ORCID 0000-0002-3284-2558
Peter ForsterMurray Edwards College, University of Cambridge, Cambridge CB3 0DF, United Kingdom.
Clarence C LeeDepartment of General Internal Medicine, Christian-Albrechts-University, University Hospital Schleswig-Holstein, 24105 Kiel, Germany.ORCID 0000-0001-6912-4800
Annette Fritscher-RavensDepartment of General Internal Medicine, Christian-Albrechts-University, University Hospital Schleswig-Holstein, 24105 Kiel, Germany.
Stefan Schreiber *Institute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University, 24105 Kiel, Germany.ORCID 0000-0003-1065-5003
Andre Franke *Institute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University, 24105 Kiel, Germany.ORCID 0000-0003-1530-5811
Philip Rosenstiel *Institute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University, 24105 Kiel, Germany.ORCID 0000-0002-9692-8828
Christian-Albrechts-Universität zu Kiel · DEEuropean Molecular Biology Laboratory · DERadboud University Nijmegen · NLUniversity of Cambridge · GB
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Whole-genome and whole-exome sequencing of individual patients allow the study of rare and potentially causative genetic variation. In this study, we sequenced DNA of a trio comprising a boy with very-early-onset inflammatory bowel disease (veoIBD) and his unaffected parents. We identified a rare, X-linked missense variant in the NAPDH oxidase
Indexed as
Mutation, MissenseCell Line, TumorChromosomes, Human, XExome SequencingHomozygoteHumansInflammatory Bowel DiseasesMaleNADPH Oxidase 1NADPH OxidasesNod2 Signaling Adaptor ProteinPolymorphism, Single NucleotideWhole Genome SequencingCYBA protein, humanNADPH Oxidase 1NADPH OxidasesNOD2 protein, humanNod2 Signaling Adaptor ProteinNOX1 protein, humaninflammation of the large intestine
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.
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. · full record | OpenQuestion