LAURIE ROBAK to Genetic Predisposition to Disease
This is a "connection" page, showing publications LAURIE ROBAK has written about Genetic Predisposition to Disease.
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0.391
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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: 0.112
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Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk. Nat Aging. 2025 Feb; 5(2):205-218.
Score: 0.110
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.086
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Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain. 2017 12 01; 140(12):3191-3203.
Score: 0.068
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.015