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Author

S. Donkervoort

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Sep 2026

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.

MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations we...

I. Zaharieva, S. Donkervoort, Cheryl Longman et al. · 0 citations
Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · 0 citations

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