Associated Papers
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.
Enikanolaiye A et al.
Genome Research, 2020
32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › M_333R
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf
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