Evidence map›Paper›PMID 37895270›Full record

ArticleGenes2023

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (

Ambreen Kanwal, Sohail A Sheikh, Faiza Aslam, Samina Yaseen, Zachary Beetham, Nathan Pankratz, Connie R Clabots, Sadaf Naz, José V Pardo

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. 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
1.3field-weighted citation impact, top 17% 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, 4 citations in OpenAlex.

  1. Review
  2. Rare Homozygous Variants inInternational journal of molecular sciences · 2025
    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

9 authors at 4 institutions in 3 countries.

Ambreen KanwalSchool of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.
Sohail A SheikhDepartment of Psychiatry, Hawkes Bay Hospital, Hastings 4120, New Zealand.
Faiza AslamSchool of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.ORCID 0009-0009-3956-8203
Samina YaseenSchool of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.
Zachary BeethamDivision of Computational Pathology, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
Nathan PankratzDivision of Computational Pathology, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
Connie R ClabotsMedicine Patient Service Line, Minneapolis Veterans Health Care System, Minneapolis, MN 55417, USA.
Sadaf NazSchool of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.ORCID 0000-0002-1912-0235
José V PardoCognitive Neuroimaging Unit, Minneapolis Veterans Health Care System, Minneapolis, MN 55417, USA.ORCID 0000-0002-8270-9122
University of Minnesota · USUniversity of the Punjab · PKHawke's Bay Hospital · NZMinneapolis VA Health Care System · US

Funding

Mendelian Variants Associated with PsychosisR21MH120692 · NIMH · UNIVERSITY OF MINNESOTA · PI NAZ, SADAF, PARDO, JOSE V · 2020 to 2020
$340k
CSRD VA I01 CX002371NIMH NIH HHS R21 MH120692
6 · The paper itself

Abstract

Psychosis is a severe mental disorder characterized by abnormal thoughts and perceptions (e.g., hallucinations) occurring quintessentially in schizophrenia and in several other neuropsychiatric disorders. Schizophrenia is widely considered as a neurodevelopmental disorder that onsets during teenage/early adulthood. A multiplex consanguineous Pakistani family was afflicted with severe psychosis and apparent autosomal recessive transmission. The first-cousin parents and five children were healthy, whereas two teenage daughters were severely affected. Structured interviews confirmed the diagnosis of DSM-V schizophrenia. Probands and father underwent next-generation sequencing. All available relatives were subjected to confirmatory Sanger sequencing. Homozygosity mapping and directed a priori filtering identified only one rare variant [MAF < 5(10)

Indexed as

Psychotic DisordersSchizophreniaAdolescentAdultalpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic AcidAnimalsChildConsanguinityHippocampusHumansMiceUbiquitin-Specific Proteasesalpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic AcidUbiquitin-Specific ProteasesUSP53 protein, humandeubiquitinating enzyme (DUB)GRIA2GRIP2homozygosity mappingintercellular junction

Identifiers

PMID37895270
PMCPMC10606770
OpenAlexW4387451877

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.