Associated Papers
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc3.pdf
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K et al.
International Journal of Molecular Sciences, 2021
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V et al.
Clinical Genetics, 2020
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