Evidence map›Paper›PMID 35054407›Full record

ArticleLife (Basel, Switzerland)2021

Two Novel Homozygous

Sajjad Karim, Samah Saharti, Nofe Alganmi, Zeenat Mirza, Ahmed Alfares, Shereen Turkistany, Manal Al-Attas, Hend Noureldin, Khadega Al Sakkaf, Heba Abusamra and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Life (Basel, Switzerland), 2021. 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
0.3field-weighted citation impact, top 46% of its field
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, 3 citations in OpenAlex.

  1. Review
  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

12 authors at 2 institutions in 1 country.

Sajjad KarimCenter of Excellence in Genomic Medicine Research, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0003-0907-2097
Samah SahartiDepartment of Pathology, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Nofe AlganmiComputer Science Department, Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0002-1219-5592
Zeenat MirzaDepartment of Medical Lab Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Ahmed AlfaresDivision of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
Shereen TurkistanyCenter of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Manal Al-AttasRoya Specialized Medical Laboratories, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Hend NoureldinRoya Specialized Medical Laboratories, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Khadega Al SakkafRoya Specialized Medical Laboratories, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Heba AbusamraRoya Specialized Medical Laboratories, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Mohammed Al-QahtaniCenter of Excellence in Genomic Medicine Research, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Adel AbuzenadahCenter of Excellence in Genomic Medicine Research, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
King Abdulaziz University · SAKing Abdulaziz Medical City · SA

Funding

Deputyship for Research & Innovation, Ministry of Education, Saudi Arabia IFPNC-008-141-2020
6 · The paper itself

Abstract

backgroundOculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including Hermansky-Pudlak syndrome 6 (

methodsDNA was extracted from proband, and whole-exome sequencing (WES) was performed using the Illumina NovaSeq platform. Bioinformatic analysis was done with a custom-designed filter pipeline to detect the causative variant. We did Sanger sequencing to confirm the candidate variant and segregation analysis, and protein-based structural analysis to evaluate the functional impact of variants.

resultProband-based WES identified two novel homozygous mutations in

conclusionTo the best of our knowledge, the double mutation in

Indexed as

double mutationHermansky-Pudlak syndrome 6HPS6 geneoculocutaneous albinismSaudi Arabiawhole-exome sequencing

Identifiers

PMID35054407
PMCPMC8779141
OpenAlexW4200528573

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.