Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Cheryl Longman

h-index 2 View on Semantic Scholar

We have 2 of 9 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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 Aug 2026

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Using induced pluripotent stem cell-derived cardiomyocytes from a biallelic TTNtv patient with dilated cardiomyopathy, sarcomere structure/function is investigated and inefficient sarcomere assembly and interaction promotes cardiomyopathy in biallelic TTNtv.

Magnhild Sekse Erdal, Jing Qi, P. Erusappan et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.