Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

por Nallamilli, Babi R. R., Pan, Yinghong, Sniderman King, Lisa, Jagannathan, Lakshmanan, Ramachander, Vinish, Lucas, Ann, Markind, Jan, Colzani, Raffaella, Hegde, Madhuri
Publicado 2023

Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States

por Wilson, Amanda, Chiorean, Alexandra, Aguiar, Mario, Sekulic, Davorka, Pavlick, Patrick, Shah, Neha, Sniderman King, Lisa, Génin, Marie, Rollot, Mélissa, Blanchon, Margot, Gosset, Simon, Montmerle, Martin, Molony, Cliona, Dumitriu, Alexandra
Publicado 2023