MAGEL2 ‐related disorders: A study and case series

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities

(2018) Takuji Enya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

(2018) Karolina E. Matuszewska et al.   CLINICAL DYSMORPHOLOGY

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

(2018) Allan Bayat et al.   European Journal of Medical Genetics

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders

(2018) Rebekah Jobling et al.   JOURNAL OF MEDICAL GENETICS

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

(2018) John M McCarthy et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

(2018) Wenjia Tong et al.   Scientific Reports

Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1

(2018) Isabel Aznarez et al.   Cell Reports

matchbox : An open-source tool for patient matching via the Matchmaker Exchange

(2018) Harindra Arachchi et al.   HUMAN MUTATION

Schaaf-Yang syndrome overview: Report of 78 individuals

(2018) John McCarthy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

(2017) Roser Urreizti et al.   Scientific Reports

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

(2015) Dan Mejlachowicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Clinical phenotypes of MAGEL2 mutations and deletions

(2014) Karin Buiting et al.   Orphanet Journal of Rare Diseases

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Chitayat–Hall syndrome

(2013) Veena Rao et al.   CLINICAL DYSMORPHOLOGY

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS