SARAH NICHOLAS to Genetic Predisposition to Disease
This is a "connection" page, showing publications SARAH NICHOLAS has written about Genetic Predisposition to Disease.
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0.363
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.236
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 01; 21(1):161-172.
Score: 0.059
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 04; 20(4):464-469.
Score: 0.056
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
Score: 0.012