Evidence map›Paper›PMID 35732499›Full record

ArticleCold Spring Harbor molecular case studies2022

A de novo start-loss in

Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 2 institutions in 1 country.

Muhammad KohailanCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.ORCID 0000-0001-5950-7939
Omayma Al-SaeiDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Sujitha PadmajeyaDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Waleed AamerDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Najwa ElbashirDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Ammira Al-Shabeeb AkilDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Abdul-Rauf KambohDepartment of Pediatric Ophthalmology, Sidra Medicine, Doha 26999, Qatar.
Khalid FakhroCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.
Hamad bin Khalifa University · QAQatar Airways (Qatar) · QA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G > T) in the

Indexed as

Mandibulofacial DysostosisMicrocephalyCodonFemaleHumansPeptide Elongation FactorsRibonucleoprotein, U5 Small NuclearCodonEFTUD2 protein, humanPeptide Elongation FactorsRibonucleoprotein, U5 Small Nuclearmandibulofacial dysostosismicrocephaly

Identifiers

PMID35732499
PMCPMC9235844
OpenAlexW4283267836

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.