Evidence map›Paper›PMID 33719903›Full record

ArticleOphthalmic genetics2021

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.

Malena Daich Varela, Robert B Hufnagel, Bin Guan, Delphine Blain, Julie C Sapp, Andrea L Gropman, Ramakrishna Alur, Jennifer J Johnston, Leslie G Biesecker, Brian P Brooks

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

Article in Ophthalmic genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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.

Malena Daich VarelaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0003-4960-4510
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Delphine BlainOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Julie C SappMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Andrea L GropmanDivision of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia, USA.
Ramakrishna AlurOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Jennifer J JohnstonMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Leslie G BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0003-2320-2396
National Institutes of Health · USNational Human Genome Research Institute · USChildren's National · US

Funding

The Genetics of Uveal ColobomaZIAEY000469 · NEI · NATIONAL EYE INSTITUTE · PI BROOKS, BRIAN · 2009 to 2025
$35.2M
Rare & Mosaic Disorders - Clinical ResearchZIAHG200388 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$17.3M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Intramural NIH HHS ZIA EY000469
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MosaicismAdultCraniofacial AbnormalitiesDevelopmental DisabilitiesExome SequencingFemaleHearing LossHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMaleMicrophthalmosPedigreeSex Chromosome DisordersSOXB1 Transcription FactorsSOX2 protein, humanSOXB1 Transcription FactorsgonadosomaticmicrophthalmiamosaicismSOX2transillumination

Identifiers

PMID33719903
PMCPMC8154737
OpenAlexW3136167125

What Socratic holds

Textmetadata
LicenceCC0
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 Socratic graph.