Evidence map›Paper›PMID 37090188›Full record

ArticleBioMed research international2023

A Novel Variant in

Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Suzanne M Leal, Abdul Khaliq, Asif Mir, Isabelle Schrauwen

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

Article in BioMed research international, 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
0.6field-weighted citation impact, top 25% 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, 2 citations in OpenAlex.

  1. Novel Variants Identified in Families With SNX27 -Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    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 3 institutions in 2 countries.

Abrar HussainHuman Molecular Genetics Lab, Department of Biological Science, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad 44000, Pakistan.ORCID https://orcid.org/0000-0003-2580-7161
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York 10032, USA.ORCID https://orcid.org/0000-0002-1889-8723
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York 10032, USA.ORCID https://orcid.org/0000-0002-7870-5655
University Of Washington Center For Mendelian GenomicsDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York 10032, USA.ORCID https://orcid.org/0000-0003-1231-8174
Abdul KhaliqHuman Molecular Genetics Lab, Department of Biological Science, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad 44000, Pakistan.ORCID https://orcid.org/0009-0003-8449-7826
Asif MirHuman Molecular Genetics Lab, Department of Biological Science, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad 44000, Pakistan.ORCID https://orcid.org/0000-0003-0442-1067
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York 10032, USA.ORCID https://orcid.org/0000-0001-7310-6082
International Islamic University, Islamabad · PKColumbia University Irving Medical Center · USUniversity of Washington · US

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493
6 · The paper itself

Abstract

Pathogenic variants in vacuolar protein sorting 13 homolog B (

Indexed as

Intellectual DisabilityMicrocephalyDevelopmental DisabilitiesFingersHumansMuscle HypotoniaMyopiaObesityPedigreePhenotypeRetinal DegenerationVesicular Transport ProteinsVesicular Transport ProteinsVPS13B protein, human

Identifiers

PMID37090188
PMCPMC10115529
OpenAlexW4365139683

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.