Associated Papers
In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.
Franke F et al.
Scientific Reports, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
Schubert T et al.
Developmental Medicine and Child Neurology, 2025
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
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D et al.
American Journal of Human Genetics, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.
Juriaans AF et al.
Hormone Research in Paediatrics, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
Caregiver-based perception of disease burden in Schaaf-Yang syndrome.
Dötsch L et al.
Molecular Genetics & Genomic Medicine, 2023
Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.
Rodriguez AM et al.
Clinical Case Reports, 2023
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
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 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
Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype-Phenotype Correlations.
Xu N et al.
Journal of Clinical Medicine, 2023
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Reznik DL et al.
Disease Models & Mechanisms, 2023
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
A nationwide survey of Schaaf-Yang syndrome in Japan.
Negishi Y et al.
Journal of Human Genetics, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H et al.
Frontiers in Endocrinology, 2022
Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis.
Nunes S et al.
Cureus, 2021
The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.
Sanderson MR et al.
The Journal of Biological Chemistry, 2021
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.
Duan Y et al.
Medicine, 2021
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.
Ahn H et al.
Medicine, 2020
Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.
Powell WT et al.
Pediatric Pulmonology, 2020
The adult phenotype of Schaaf-Yang syndrome.
Marbach F et al.
Orphanet Journal of Rare Diseases, 2020
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.
Chen H et al.
Jci Insight, 2020
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.
Chen X et al.
Medicine, 2020
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.
Xiao B et al.
Molecular Syndromology, 2020
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Ieda D et al.
Plos One, 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
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W et al.
Science China. Life Sciences, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A et al.
Clinical Genetics, 2019
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.
Bayat A et al.
European Journal of Medical Genetics, 2018
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
McCarthy JM et al.
Journal of Medical Genetics, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Jobling R et al.
Journal of Medical Genetics, 2018
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
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
Imprinting: the Achilles heel of trio-based exome sequencing.
Aten E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014