Single locus (Mendelian) diseases are a leading cause of childhood hospitalization,
intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome …

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …

This study aims to inform future genetic reanalysis management by evaluating the yield of
whole-exome sequencing (WES) reanalysis in standard patient care in the Netherlands …

Genetic diagnosis of rare diseases requires accurate identification and interpretation of
genomic variants. Clinical and molecular scientists from 37 expert centers across Europe …

Background Peripheral neuropathies in mitochondrial disease are caused by mutations in
nuclear genes encoding mitochondrial proteins, or in the mitochondrial genome. Whole …

Humans manifest around 10 000 different rare diseases. This might, however, be an
underestimation. Rare diseases are individually rare, but when all rare diseases are taken …

Los trastornos del movimiento monogénicos engloban síndromes neurológicos raros
vinculados principalmente a la disfunción de ganglios basales y cerebelo. Su diagnóstico …

La déficience intellectuelle (DI) concerne 2% de la population et représente la première
cause de consultation dans les centres de génétique pédiatriques. Plus de la moitié des …

This study aims to inform future genetic reanalysis management by evaluating the yield of
whole-exome sequencing (WES) reanalysis in standard patient care in the Netherlands …

Svaka bolest čija je učestalost manja od 1 u 2000 ljudi definiše se kao retka bolest. Iz tog
razloga, broj retkih bolesti je veliki. Do sada je opisano preko 6000 različitih retkih bolesti …