P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*

by Naga Guruju, Vanessa Jump, Babi Nallamilli, Ruby Liu, Zhiwen Luo, Madhuri Hegde
Published 2023-01-01

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

by Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Jill Steigerwalt, Christin Collins, Lora Bean, Madhuri Hegde
Published 2024-01-01