Evidence map›Paper›PMID 36376065›Full record

ArticleCold Spring Harbor molecular case studies2022

Identification of a novel large multigene deletion and a frameshift indel in

Riccardo Sangermano, Pooja Biswas, Lori S Sullivan, Emily M Place, Shyamanga Borooah, Juerg Straubhaar, Eric A Pierce, Stephen P Daiger, Kinga M Bujakowska, Radha Ayaggari

Open access · diamondAbstract read
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, 3 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

10 authors at 3 institutions in 1 country.

Riccardo Sangermano *Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA.ORCID 0000-0001-8657-0810
Pooja Biswas *Shiley Eye Institute, University of California San Diego, La Jolla, California 92093, USA.
Lori S SullivanHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Emily M PlaceOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA.
Shyamanga BorooahShiley Eye Institute, University of California San Diego, La Jolla, California 92093, USA.
Juerg StraubhaarOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA.
Eric A PierceOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA.
Stephen P DaigerHuman Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Kinga M BujakowskaOcular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA.
Radha AyaggariShiley Eye Institute, University of California San Diego, La Jolla, California 92093, USA.
Massachusetts Eye and Ear Infirmary · USUniversity of California San Diego · USThe University of Texas Health Science Center at Houston · US

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Precision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9M
Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LINDA M ZANGWILL · 2012 to 2026
$10.3M
Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
Molecular Mechanisms Underlying Macular DegenerationsR01EY013198 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI AYYAGARI, RADHA · 2001 to 2011
$4.0M
Unraveling the molecular pathology of retinal degeneration through single cell genomicsR01EY031663 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA, FRAZER, KELLY A · 2021 to 2025
$3.3M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Molecular mechanism underlying late-onset retinal/macular degenerationR01EY030591 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2020 to 2023
$1.9M
NEI NIH HHS P30 EY022589NEI NIH HHS R01 EY012910NEI NIH HHS R01 EY013198NEI NIH HHS R01 EY021237NEI NIH HHS R01 EY030591NEI NIH HHS R01 EY031663NHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29) in the

Indexed as

Night BlindnessRetinal DegenerationBlindnessCyclic Nucleotide Phosphodiesterases, Type 6Frameshift MutationHumansINDEL MutationMutationPedigreeCyclic Nucleotide Phosphodiesterases, Type 6PDE6B protein, humanperipheral visual field lossprogressive visual field defectssevere visual impairment

Identifiers

PMID36376065
PMCPMC9808551
OpenAlexW4308951932

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.