ArticleJournal of autism and developmental disorders2020
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
Article in Journal of autism and developmental disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- MAGEL2-related disorders: A study and case series.Clinical genetics · 2019Pooled it
- Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated withFrontiers in cell and developmental biology · 2026Article
- In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.Scientific reports · 2025Article
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Caregiver-based perception of disease burden in Schaaf-Yang syndrome.Molecular genetics & genomic medicine · 2023Article
- Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.Journal of medical genetics · 2023Article
- Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice.Genes, brain, and behavior · 2022Article
- Oxytocin administration in neonates shapes hippocampal circuitry and restores social behavior in a mouse model of autism.Molecular psychiatry · 2021Article
- Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.Medicine · 2020Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.
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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.