Evidence map›Paper›PMID 27895974›Full record

ReviewJournal of pediatric genetics2016

Genetic Screening in Patients with Craniofacial Malformations.

Amanda J Yoon, Binh N Pham, Katrina M Dipple

Abstract readReview
In one paragraph

Review in Journal of pediatric genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Genetic Disorders Detectable by Fetal MRI: A Review.Diagnostics (Basel, Switzerland) · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Translating Science into Improved Health for All.Journal of dental research · 2022
    Article
  8. Article
  9. Review
  10. Article
  11. Chemical-induced craniofacial anomalies caused by disruption of neural crest cell development in a zebrafish model.Developmental dynamics : an official publication of the American Association of Anatomists · 2020
    Article
  12. 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

3 authors.

Amanda J YoonDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California.
Binh N PhamDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California.
Katrina M DippleDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome. The identification of the specific syndrome is important for the overall care of the patient (as it identifies risk for other medical problems such as congenital heart defect) that will have to be taken into account in the care of the craniofacial malformation. In addition, knowing the specific syndrome will allow the family to understand how this happened to their child and the recurrence risk for future pregnancies. With the advent of new technologies, there are now many types of genetic testing available (including, karyotype, fluorescence in situ hybridization, chromosomal microarrays, and next generation sequencing) and the medical geneticist and genetic counselor can determine which specific testing is needed for a given patient.

Indexed as

chromosomal microarrayscraniofacial anomalieskaryotypenext generation sequencing

Identifiers

PMID27895974
PMCPMC5123894

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.