LINDSAY BURRAGE to Developmental Disabilities
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Developmental Disabilities.
Connection Strength
1.237
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Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun; 62(6):103531.
Score: 0.458
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Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 05; 136(1):65-73.
Score: 0.147
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.141
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
Score: 0.139
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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: 0.128
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.119
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194(1):17-30.
Score: 0.041
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism. 2021 10 26; 12(1):69.
Score: 0.036
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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: 0.029