Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

por Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
Publicado 2019

1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

por Manoli, Irini, Pass, Alexandra R., Harrington, Elizabeth A., Sloan, Jennifer L., Gagné, Jack, McCoy, Samantha, Bell, Sarah L., Hattenbach, Jacob D., Leitner, Brooks P., Duckworth, Courtney J., Fletcher, Laura A., Cassimatis, Thomas M., Galarreta, Carolina I., Thurm, Audrey, Snow, Joseph, Van Ryzin, Carol, Ferry, Susan, Mew, Nicholas Ah, Shchelochkov, Oleg A., Chen, Kong Y., Venditti, Charles P.
Publicado 2021

Correction to: 1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

por Manoli, Irini, Pass, Alexandra R., Harrington, Elizabeth A., Sloan, Jennifer L., Gagné, Jack, McCoy, Samantha, Bell, Sarah L., Hattenbach, Jacob D., Leitner, Brooks P., Duckworth, Courtney J., Fletcher, Laura A., Cassimatis, Thomas M., Galarreta, Carolina I., Thurm, Audrey, Snow, Joseph, Van Ryzin, Carol, Ferry, Susan, Mew, Nicholas Ah, Shchelochkov, Oleg A., Chen, Kong Y., Venditti, Charles P.
Publicado 2021