Discover open access scientific publications

Search, annotate, share and cite publications

Publications in Medicine

An Ashkenazi Jewish SMN1 Haplotype Specific to Duplication Alleles Improves Pan-Ethnic Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

Xrare: A Machine Learning Method Jointly Modeling Phenotypes and Genetic Evidence for Rare Disease Diagnosis

Genetics in Medicine

English

CORRIGENDUM: Novel Findings With Reassessment of Exome Data: Implications for Validation Testing and Interpretation of Genomic Data

Genetics in Medicine

English

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine

English

In This Issue

Genetics in Medicine

English

Lysosomal Storage Diseases: Diagnostic Confirmation and Management of Presymptomatic Individuals

Genetics in Medicine

English

Exploring the Importance of Case-Level Clinical Information for Variant Interpretation

Genetics in Medicine

English

Preferences for Opt-In and Opt-Out Enrollment and Consent Models in Biobank Research: A National Survey of Veterans Administration Patients

Genetics in Medicine

English

In This Issue

Genetics in Medicine

English

Cost-Effectiveness of Genotype-Guided and Dual Antiplatelet Therapies in Acute Coronary Syndrome

Annals of Internal Medicine

Internal Medicine

English