HUDA ZOGHBI to Genetic Testing
This is a "connection" page, showing publications HUDA ZOGHBI has written about Genetic Testing.
Connection Strength
0.539
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An RNA interference screen identifies druggable regulators of MeCP2 stability. Sci Transl Med. 2017 Aug 23; 9(404).
Score: 0.334
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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 08; 43(8):1097-1113.
Score: 0.112
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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36.
Score: 0.026
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Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595.
Score: 0.025
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Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Hum Mol Genet. 2019 06 15; 28(12):2014-2029.
Score: 0.024
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.010
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.009