Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner R et al.
Plos One, 2020
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
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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