LAURIE ROBAK to Exome
This is a "connection" page, showing publications LAURIE ROBAK has written about Exome.
Connection Strength
0.303
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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: 0.102
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.089
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.039
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.025
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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: 0.025
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.023