Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.
Kotta MC et al.
Journal of the American Heart Association, 2023
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss.
Perry J et al.
The Laryngoscope, 2023
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S et al.
International Journal of Molecular Sciences, 2016
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