D. Calame

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio sequencing of an affected child and both paren...

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

A 9-year-old male with biallelic COX14 variants presents an attenuated encephalomyopathic phenotype with novel endocrine and cardiovascular manifestations, underscoring the importance of genomic evaluation in suspected mitochondrial disorders even in the absence of classic biochemical markers such as lactic acidosis.

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...