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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

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A screening-based platform for the assessment of cellular respiration in Caenorhabditis elegans

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

The characterization of goat genetic diversity: Towards a genomic approach

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Mitonuclear protein imbalance as a conserved longevity mechanism