Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine

per Thoene, Jess G., Lemons, Rosemary M.
Publicat 1982

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

per Jia, Xiaoyan, Burugula, Bala Bharathi, Chen, Victor, Lemons, Rosemary M., Jayakody, Sajini, Maksutova, Mariam, Kitzman, Jacob O.
Publicat a Am J Hum Genet (2021)

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

per Pérez Millán, María I., Vishnopolska, Sebastian A., Daly, Alexandre Z., Bustamante, Juan P., Seilicovich, Adriana, Bergadá, Ignacio, Braslavsky, Débora, Keselman, Ana C., Lemons, Rosemary M., Mortensen, Amanda H., Marti, Marcelo A., Camper, Sally A., Kitzman, Jacob O.
Publicat a Mol Genet Genomic Med (2018)