Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosisLisa Sniderman King, Raffaella Colzani, Lakshmanan Jagannathan et al.|Molecular Genetics and Metabolism|2023Cited by 9
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathiesBabi Ramesh Reddy Nallamilli, Madhuri Hegde, Yinghong Pan et al.|Annals of Clinical and Translational Neurology|2023Cited by 8
P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritanceMadhuri Hegde, Ruby Liu, Babi Ramesh Reddy Nallamilli et al.|Genetics in Medicine Open|2023Cited by 1
P518: Limb-girdle muscular dystrophy and other myopathy patients diagnostic yield in large cohort of more than 6000 patients*Babi Ramesh Reddy Nallamilli, Madhuri Hegde, Yinghong Pan et al.|Genetics in Medicine Open|2023Cited by 0
P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disordersBabi Ramesh Reddy Nallamilli, Madhuri Hegde, Christin Collins et al.|Genetics in Medicine Open|2024Cited by 0