Sarah Collins to Mutation
This is a "connection" page, showing publications Sarah Collins has written about Mutation.
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0.147
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.054
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.052
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.
Score: 0.015
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9).
Score: 0.013
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 03; 98(3):579-587.
Score: 0.013