Cristina da Silva

发表

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

M. Newton, R. Weindruch, T. Prolla, 2015, PloS one.

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

M. Hegde, J. Alexander, Cristina da Silva, 2017, Pediatric neurology.

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

M. Hegde, C. Tibbetts, Cristina da Silva, 2014, The Journal of molecular diagnostics : JMD.

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

Joshua L. Deignan, Lora J. H. Bean, J. Rosenfeld, 2020, American journal of medical genetics. Part A.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

M. Hegde, A. Kesari, A. Ankala, 2018, Annals of clinical and translational neurology.

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

Lora J. H. Bean, M. Hegde, A. Ferlini, 2015, Annals of neurology.

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

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

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

Madhuri Hegde, Cristina da Silva, M. Hegde, 2013, BMC Genetics.

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

Philip J. Holt, S. Milla, J. Alexander, 2018, Case reports in genetics.

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

Lora J. H. Bean, J. Balciuniene, Cristina da Silva, 2023, JAMA network open.

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

M. Newton, R. Weindruch, T. Prolla, 2015, PloS one.

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

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.