SARAH NICHOLAS to Exome
This is a "connection" page, showing publications SARAH NICHOLAS has written about Exome.
Connection Strength
0.229
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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: 0.101
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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: 0.096
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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.033