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Publications by Alessandra Murgia
Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge
Human Mutation
Genetics
Mavoglurant in Fragile X Syndrome: Results of Two Open-Label, Extension Trials in Adults and Adolescents
Scientific Reports
Multidisciplinary
Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene
European Journal of Human Genetics
Genetics
Molecular Analysis of Two Uncharacterized Sequence Variants of the VHL Gene
Journal of Human Genetics
Genetics
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
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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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Autoimmune Diseases — Connecting Risk Alleles With Molecular Traits of the Immune System
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Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era
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