ArticleCold Spring Harbor molecular case studies2017
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
13 citing papers in PubMed, 15 citations in OpenAlex.
- Genotype-phenotype correlations inFrontiers in pediatrics · 2026Article
- Three patients with new mutations in theTranslational pediatrics · 2024Article
- Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.Pediatric gastroenterology, hepatology & nutrition · 2022Review
- Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.Orphanet journal of rare diseases · 2021Article
- Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.Frontiers in pharmacology · 2021Article
- New mutation inWorld journal of clinical cases · 2020Article
- Childhood diarrhoeal diseases in developing countries.Heliyon · 2020Review
- Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.Gastroenterology research and practice · 2020Review
- Pitfalls of clinical exome and gene panel testing: alternative transcripts.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.Human mutation · 2019Article
- Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2019Article
- Mutation in an alternative transcript ofCold Spring Harbor molecular case studies · 2018Article
- Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a case of an infant presenting with intractable diarrhea who subsequently developed dilated cardiomyopathy, for whom a diagnosis was not initially achieved despite extensive clinical testing, including panel-based genetic testing. Research-based whole-genome sequences of the proband and both parents were analyzed by the SAVANNA pipeline, a variant prioritization strategy integrating features of variants, genes, and phenotypes, which was implemented using publicly available tools. Although the intestinal morphological abnormalities characteristic of congenital tufting enteropathy (CTE) were not observed in the initial clinical gastrointestinal tract biopsies of the proband, an intronic variant,
Indexed as
Identifiers
What OpenQuestion holds
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.