ArticleJournal of personalized medicine2020
Dysmorphology in the Era of Genomic Diagnosis.
Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 8 citations in OpenAlex.
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.Molecular genetics & genomic medicine · 2024Article
- Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.The application of clinical genetics · 2024Article
- Perspectives on the future of dysmorphology.American journal of medical genetics. Part A · 2023Article
- Does Father Christmas Have a Distinctive Facial Phenotype?Vision (Basel, Switzerland) · 2022Article
- Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.Orphanet journal of rare diseases · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic and genomic testing technologies have expanded beyond levels of diagnostic capability that were unimaginable even a few years ago. While this has significantly benefited clinicians in their care of patients and families, it has also altered how geneticists evaluate patients. One immediate example is the role of the dysmorphologic physical exam in the patient evaluation. While some have suggested that it is no longer necessary, we argue that the dysmorphologic physical exam is still essential, albeit in a different role.
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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.