DANIEL CALAME to Genetic Predisposition to Disease
This is a "connection" page, showing publications DANIEL CALAME has written about Genetic Predisposition to Disease.
Connection Strength
0.589
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.341
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
Score: 0.111
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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.085
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199.
Score: 0.026
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.026