Aditi Kidambi

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Marina Kennerson, Eppie M. Yiu, David Chuang et al. · Human Molecular Genetics · 2013 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing

Alexander P. Drew, Danqing Zhu, Aditi Kidambi et al. · Molecular Genetics & Genomic Medicine · 2015 · 68 citations · Full text

Medicine, Genetics, Neurology +17

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Megan H. Brewer, Rabia Chaudhry, Jessica Qi et al. · PLoS Genetics · 2016 · 36 citations · Full text

Life Sciences, Genetics, Neurology +15

X‐linked Charcot‐Marie‐Tooth disease type 6 (<scp>CMTX6</scp>) patients with a p.<scp>R158H</scp> mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Marina Kennerson, Eun Joong Kim, Anna Siddell et al. · Journal of the Peripheral Nervous System · 2016 · 17 citations

Life Sciences, Genetics, Molecular Genetics +13

Re‐analysis of an original <scp><i>CMTX3</i></scp> family using exome sequencing identifies a known <scp><i>BSCL2</i></scp> mutation

Rabia Chaudhry, Aditi Kidambi, Megan H. Brewer et al. · Muscle & Nerve · 2012 · 13 citations · Full text

Medicine, Genetics, Neurology +9