Browse by CSHL Author

Paper

Staklinski, Stephen J, Scheben, Armin, Siepel, Adam, Kilberg, Michael S (November 2023) Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification. bioRxiv. (Submitted)

Chang, Mario C, Staklinski, Stephen J, Malut, Vinay R, Pierre, Geraldine L, Kilberg, Michael S, Merritt, Matthew E (April 2023) Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells. Nutrients, 15 (8). p. 1938. ISSN 2072-6643

Staklinski, Stephen J, Chang, Mario C, Ahrens-Nicklas, Rebecca C, Kaur, Shagun, Stefanatos, Arianna K, Dudenhausen, Elizabeth E, Merritt, Matthew E, Kilberg, Michael S (March 2023) Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines. JIMD Reports, 64 (2). pp. 167-179. ISSN 2192-8304

Chang, Mario C, Staklinski, Stephen J, Merritt, Matthew E, Kilberg, Michael S (2023) A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency. Biology Methods and Protocols, 8 (1). bpad026. ISSN 2396-8923