Associated Papers
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
Bogenschutz EL et al.
Hgg Advances, 2020
33263113 (PubMed )
Supplement: mmc5.xlsx › FiItered_Recessive_Mutations
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
MBASED: allele-specific expression detection in cancer tissues and cell lines.
Mayba O et al.
Genome Biology, 2014
25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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