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Huda Y. Zoghbi

Baylor College of Medicine
Howard Hughes Medical Institute
Boston Children's Hospital

484

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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

2021 Human Mutation
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Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions.

2021 Genes & Development
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Remembering Steve Warren (1953-2021): A giant in the field of genetics

2021 The Spectrum
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Parkinson's Disease Genetics and Pathophysiology.

2021 Annual Review of Neuroscience
- Gabriel E. Vázquez-Vélez
- Huda Y. Zoghbi
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Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome

2021 Science Translational Medicine
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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.

2021 Nature
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A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1.

2021 Journal of Molecular Biology
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Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1.

2021 JCI insight
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Purkinje cells and their trees.

2021 Lancet Neurology
- Huda Y. Zoghbi
- Arpan R. Mehta
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Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice.

2021 eLife
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