Arunkanth Ankala

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala et al. · Genetics in Medicine · 2016 · 237 citations · Full text

Engineering, Genetics, Molecular Biology +16

Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari et al. · Annals of Clinical and Translational Neurology · 2018 · 181 citations · Full text

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Arunkanth Ankala, Cristina da Silva, Francesca Gualandi et al. · Annals of Neurology · 2014 · 166 citations · Full text

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Tracy Brandt, Laura M. Sack, Dolores Arjona et al. · Genetics in Medicine · 2019 · 139 citations · Full text

Allelic Variant, Next-generation Sequencing, Genetics +9

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott et al. · Human Molecular Genetics · 2012 · 137 citations · Full text