Cristina da Silva

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

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel

Kameryn M. Butler, Cristina da Silva, John Alexander et al. · Pediatric Neurology · 2017 · 103 citations

Medicine, Genetics, Genetic Epidemiology +10

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

Ephrem Chin, Cristina da Silva, Madhuri Hegde · BMC Genetics · 2013 · 95 citations · Full text

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

Lora Jh Bean, Stuart W. Tinker, Cristina da Silva et al. · Human Mutation · 2013 · 54 citations · Full text

Genetics, Genetic Epidemiology, Emr Integration +24