Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome

por Muirhead, Kayla J., Clause, Amanda R., Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L., Hagelstrom, R. Tanner, Taft, Ryan J., Vanderver, Adeline
Publicado 2021

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

por Mori, Mari, Clause, Amanda R., Truxal, Kristen, Hagelstrom, R. Tanner, Manickam, Kandamurugu, Kaler, Stephen G., Prasad, Vinay, Windster, Jonathan, Alves, Maria M., Di Lorenzo, Carlo
Publicado 2022

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

por Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.
Publicado 2023