Associated Papers
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
Centeno-Pla M et al.
Journal of Medical Genetics, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.
Huang Z et al.
Annals of Translational Medicine, 2023
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L et al.
Journal of Medical Genetics, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
A nationwide survey of Schaaf-Yang syndrome in Japan.
Negishi Y et al.
Journal of Human Genetics, 2022
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.
Duan Y et al.
Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Emerging roles of the MAGE protein family in stress response pathways.
Florke Gee RR et al.
The Journal of Biological Chemistry, 2020
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Negishi Y et al.
Orphanet Journal of Rare Diseases, 2019
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
MAGEL2-related disorders: A study and case series.
Patak J et al.
Clinical Genetics, 2019
mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.
Crutcher E et al.
Scientific Reports, 2019
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
Enya T et al.
American Journal of Medical Genetics. Part A, 2018
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R et al.
Scientific Reports, 2017
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017