Evidence map›Paper›PMID 38181734›Full record

ArticleAmerican journal of human genetics2024

An interactive atlas of three-dimensional syndromic facial morphology.

J David Aponte, Jordan J Bannister, Hanne Hoskens, Harold Matthews, Kaitlin Katsura, Cassidy Da Silva, Tim Cruz, Julie H M Pilz, Richard A Spritz, Nils D Forkert and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

J David AponteDepartment of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; DeepSurface AI Inc., Calgary, AB, Canada.
Jordan J BannisterDeepSurface AI Inc., Calgary, AB, Canada.
Hanne HoskensDepartment of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Harold MatthewsDepartment of Human Genetics, KU Leuven, Leuven, Belgium.
Kaitlin KatsuraDepartment of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
Cassidy Da SilvaDepartment of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Tim CruzDeepSurface AI Inc., Calgary, AB, Canada.
Julie H M PilzDeepSurface AI Inc., Calgary, AB, Canada.
Richard A SpritzDepartment of Pediatrics and the Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
Nils D ForkertDepartment of Radiology and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Peter ClaesDepartment of Human Genetics, KU Leuven, Leuven, Belgium; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.
Francois P BernierDepartment of Medical Genetics and the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
Ophir D KleinDepartment of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA; Department of Pediatrics, Cedars-Sinai Guerin Children's, Los Angeles, CA, USA.
David C KatzDepartment of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; DeepSurface AI Inc., Calgary, AB, Canada.
Benedikt HallgrímssonDepartment of Cell Biology & Anatomy, Alberta Children's Hospital Research Institute and McCaig Bone and Joint Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: bhallgri@ucalgary.ca.

Funding

Developing 3D Craniofacial Morphometry Data and Tools to Transform DysmorphologyU01DE024440 · NIDCR · UNIVERSITY OF COLORADO DENVER · PI HALLGRIMSSON, BENEDIKT, KLEIN, OPHIR D · 2014 to 2018
$3.3M
NIDCR NIH HHS U01 DE024440
6 · The paper itself

Abstract

Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes. Users can visualize syndrome facial appearance estimates quantified from data and easily compare craniofacial phenotypes of different syndromes. Our application also provides a map of morphological similarity between a target syndrome and other syndromes. Finally, users can upload 3D facial scans of individuals and compare them to our syndrome atlas estimates. In summary, we provide an interactive reference for the craniofacial phenotypes of syndromes that allows for precise, individual-specific comparisons of dysmorphology.

Indexed as

FaceSoftwareFaciesHumansPhenotypeSyndrome3D facial imagingdiagnosisgenetic diseasehumanmorphometricspenetrancevisualization

Identifiers

PMID38181734
PMCPMC10806736

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.