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

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, +19

Annals of Clinical and Translational Neurology

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

Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, +5

Annals of Neurology

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

Kameryn M. Butler, Cristina da Silva, John Alexander, +2

Pediatric Neurology

MedicineGeneticsGenetic EpidemiologyStatistical GeneticsClinical Gene Panel +8

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

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, +1

Human Mutation

GeneticsGenetic EpidemiologyEmr IntegrationGenomicsBioinformatics Database +22

<i><scp>SLC</scp>6A1</i>variants identified in epilepsy patients reduce γ‐aminobutyric acid transport

Kari A. Mattison, Kameryn M. Butler, George Andrew S. Inglis, +8

Epilepsia

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Melanie A. Jones, Devin Rhodenizer, Cristina da Silva, +8

Molecular Genetics and Metabolism

Genetic TestingNext GenerationMendelian DisorderGenetic DisorderMedicine +9

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Johanna Schmidt, Amy Pizzino, Jessica Nicholl, +24

American Journal of Medical Genetics Part A

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Kameryn M. Butler, Cristina da Silva, Yuval Shafir, +4

Epilepsy Research

NeurogenomicsGenetic DisorderGeneticsGene Panel AnalysisNeurology +5

A Conserved Transcriptional Signature of Delayed Aging and Reduced Disease Vulnerability Is Partially Mediated by SIRT3

Jamie L. Barger, Rozalyn M. Anderson, Michael A. Newton, +6

PLoS ONE

Anti-agingAgingGeneticsCell DeathBiogerontology +20