SynthesisClinical genetics2019
MAGEL2-related disorders: A study and case series.
Synthesis in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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.
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient.The application of clinical genetics · 2026Article
- 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
- Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.The Journal of molecular diagnostics : JMD · 2025Article
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Assessment of inbreeding coefficients and inbreeding depression on complex traits from genomic and pedigree data in Nelore cattle.BMC genomics · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.American journal of human genetics · 2024Article
- [Recent advances in the genetic etiology of central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Identifying TRIM11 Upregulators as Therapeutic Targets in Alzheimer's Disease: A Bayesian Network Approach.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- AAV-BDNF gene therapy ameliorates a hypothalamic neuroinflammatory signature in theMolecular therapy. Methods & clinical development · 2023Article
- BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.European journal of human genetics : EJHG · 2023Article
- Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.Journal of medical genetics · 2023Article
- Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype-Phenotype Correlations.Journal of clinical medicine · 2023Article
- Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.Disease models & mechanisms · 2023Article
- A nationwide survey of Schaaf-Yang syndrome in Japan.Journal of human genetics · 2022Article
- Leptin signaling and leptin resistance.Medical review (2021) · 2022Review
- Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).Molecular genetics & genomic medicine · 2022Article
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 2 countries.
Funding
Abstract
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS, SYS and PWS, and analyze genotype-phenotype correlations among them. We conclude that there is neither a clinical nor etiological difference between CHS and SYS, and propose that the two syndromes simply be referred to as MAGEL2-related disorders.
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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.