Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome
sequencing for precisely identifying the molecular causes of rare disorders. A powerful …

VPS13 protein family members VPS13A through VPS13C have been associated with
various recessive movement disorders. We describe the first disease association of rare …

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in …

The structural biogenesis and functional proficiency of the multiheteromeric complexes
forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the …

High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …

The accurate quantification of cellular and mitochondrial bioenergetic activity is of great
interest in medicine and biology. Mitochondrial stress tests performed with Seahorse …

Currently, one of the main challenges in human molecular genetics is the interpretation of
rare genetic variants of unknown clinical significance. A conclusive diagnosis is of …

Since Garrod's first description of alkaptonuria in 1902, and newborn screening for
phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized …