ArticleGenes2022
Novel Genetic Diagnoses in Septo-Optic Dysplasia.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Intragenic loss-of-function variants in transcription factorsJournal of medical genetics · 2026Article
- Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo-Optic Dysplasia in a Small-for-Gestational-Age Infant-A Case Report.Clinical case reports · 2026Article
- Importance and Potential of Rare Disease Research in Pediatric Rheumatology and Beyond: Pushing Frontiers.ACR open rheumatology · 2025Review
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Marital Cohesion and Perceived Stress in Parents of Children with Special Educational Needs: A Study of the Impact on Couple Dynamics.Children (Basel, Switzerland) · 2025Article
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.Genome biology · 2022Article
- Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.Scientific reports · 2021Article
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors has been identified in SOD cohorts, most cases lack a genetic diagnosis, with multifactorial risk factors being thought to play a role. Exome sequencing in a cohort of families with a clinical diagnosis of SOD identified a genetic diagnosis in 3/6 families, de novo variants in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.