LINDSAY BURRAGE to Genetic Variation
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Genetic Variation.
Connection Strength
0.787
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.367
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A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 02 08; 119(6).
Score: 0.113
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.099
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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037.
Score: 0.090
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.082
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
Score: 0.027
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Genetic dissection of complex traits with chromosome substitution strains of mice. Science. 2004 Apr 16; 304(5669):445-8.
Score: 0.008