Associated Papers
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.
Key J et al.
Cells, 2021
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS et al.
Nature Communications, 2017
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