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

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

por Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi R R, Hegde, Madhuri, Brown, Robert H
Publicado 2014

Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm:...

por Dastur, Rashna Sam, Gaitonde, Pradnya Satish, Kachwala, Munira, Nallamilli, Babi R. R., Ankala, Arunkanth, Khadilkar, Satish V., Atchayaram, Nalini, Gayathri, N., Meena, A. K., Rufibach, Laura, Shira, Sarah, Hegde, Madhuri
Publicado 2017