Evidence map›Paper›PMID 36046236›Full record

ArticleFrontiers in genetics2022

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the

Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V Malicdan, Yair Anikster

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

Article in Frontiers in genetics, 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
0.4field-weighted citation impact, top 47% 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. Review
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

9 authors at 3 institutions in 2 countries.

Dina Marek-YagelMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Shachar Abudi-SinreichSackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Michal MacarovDepartment of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Alvit VeberMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Nechama ShalvaMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Amit Mary PhilosophMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Ben Pode-ShakkedMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
May Christine V MalicdanMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States.
Yair AniksterMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Tel Aviv University · ILHadassah Medical Center · ILOffice of the Director · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing variants in specific genes. Variants in the

Indexed as

Ashkenazi JewishdeletionHermansky–Pudlak syndromeHPS-3HPS3oculocutaneous albinism

Identifiers

PMID36046236
PMCPMC9420964
OpenAlexW4291378145

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.