Evidence map›Paper›PMID 36484420›Full record

ArticleAmerican journal of medical genetics. Part A2023

Perspectives on the future of dysmorphology.

Benjamin D Solomon, Margaret P Adam, Chin-To Fong, Katta M Girisha, Judith G Hall, Anna C E Hurst, Peter M Krawitz, Shahida Moosa, Shubha R Phadke, Cedrik Tekendo-Ngongang and 1 more

Abstract readEditorial
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–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

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Generative Methods for Pediatric Genetics Education.medRxiv : the preprint server for health sciences · 2023
    Article
  11. The future role of facial image analysis in ACMG classification guidelines.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Benjamin D SolomonMedical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Margaret P AdamDepartment of Pediatrics, University of Washington, Seattle, Washington, USA.
Chin-To FongDepartment of Genetics, University of Rochester, Rochester, New York, USA.
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0002-0139-8239
Judith G HallUniversity of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.
Anna C E HurstDepartment of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID 0000-0002-3194-8625
Shahida MoosaDivision of Molecular Biology and Human Genetics, Stellenbosch University, Stellenbosch, South Africa.ORCID 0000-0002-4463-3067
Shubha R PhadkeDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.ORCID 0000-0002-6624-082X
Cedrik Tekendo-NgongangMedical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Tara L WengerDivision of Genetic Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-1703-1546

Funding

Intramural NIH HHS ZIA HG200406
6 · The paper itself

Abstract

The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades.

Indexed as

Artificial IntelligenceGenomicsGenome, HumanHumansdysmorphologymedical geneticsmedical genomics

Identifiers

PMID36484420
PMCPMC9928773

What OpenQuestion holds

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Registered trials

None linked

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.