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Article
Open AccessClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...
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Article
Open AccessLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of sp...
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Article
Open AccessImpairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
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Article
Open AccessPrognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to sk...