LAURIE ROBAK to Mutation
This is a "connection" page, showing publications LAURIE ROBAK has written about Mutation.
Connection Strength
0.243
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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: 0.064
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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: 0.051
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
Score: 0.050
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.047
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Genetics and Pathogenesis of Parkinson's Syndrome. Annu Rev Pathol. 2023 01 24; 18:95-121.
Score: 0.018
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The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.013