Associated Papers
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
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
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W et al.
Science China. Life Sciences, 2019
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
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH11T1
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