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Publications by Donna M. Krasnewich
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Mutation in the Key Enzyme of Sialic Acid Biosynthesis Causes Severe Glomerular Proteinuria and Is Rescued by N-Acetylmannosamine
Journal of Clinical Investigation
Medicine
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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
Nature Reviews Genetics
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Evolution of Genetic and Genomic Features Unique to the Human Lineage
Nature Reviews Genetics
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
Nature Reviews Genetics
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
Nature Reviews Genetics
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Molecular Biology
Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
Nature Reviews Genetics
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Putting Gene Essentiality Into Context
Nature Reviews Genetics
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
Nature Reviews Genetics
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Molecular Biology
Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
Nature Reviews Genetics
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