Associated Papers
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Aleo S et al.
Molecular Syndromology, 2023
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
Poquérusse J et al.
Journal of Human Genetics, 2022
PRMT7 as a unique member of the protein arginine methyltransferase family: A review.
Jain K et al.
Archives of Biochemistry and Biophysics, 2019
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Valenzuela I et al.
European Journal of Medical Genetics, 2019
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
Birnbaum R et al.
American Journal of Medical Genetics. Part A, 2019
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.
Agolini E et al.
Clinical Genetics, 2018
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tan TY et al.
Jama Pediatrics, 2017
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
Kernohan KD et al.
Clinical Genetics, 2017
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N et al.
Nature Genetics, 2015
26437029 (PubMed )
Supplement: NIHMS64880-supplement-Supplementary_legends.docx
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