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Publications by Livija Medne
Novel Findings With Reassessment of Exome Data: Implications for Validation Testing and Interpretation of Genomic Data
Genetics in Medicine
Medicine
Genetics
CORRIGENDUM: Novel Findings With Reassessment of Exome Data: Implications for Validation Testing and Interpretation of Genomic Data
Genetics in Medicine
Medicine
Genetics
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 Are Likely Mediated by Complex Low-Copy Repeats
Human Mutation
Genetics
Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24
American Journal of Medical Genetics, Part A
Genetics
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Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020
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Sequencing Studies in Human Genetics: Design and Interpretation
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Evolution of Genetic and Genomic Features Unique to the Human Lineage
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
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Putting Gene Essentiality Into Context
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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