William Dobyns to Lissencephaly
This is a "connection" page, showing publications William Dobyns has written about Lissencephaly.
Connection Strength
4.233
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 09 14; 145(9):3274-3287.
Score: 0.869
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The Names of Things: The 2018 Bernard Sachs Lecture. Pediatr Neurol. 2021 09; 122:41-49.
Score: 0.800
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.598
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The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb; 51 Suppl 1:5-9.
Score: 0.363
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.219
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Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.
Score: 0.204
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853.
Score: 0.177
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021.
Score: 0.167
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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 08; 26(8):1132-1142.
Score: 0.160
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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: 0.160
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129.
Score: 0.144
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48.
Score: 0.112
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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul 15; 19(14):2817-27.
Score: 0.092
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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010 Jun; 25(6):738-41.
Score: 0.089
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Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008; 10(1):47-62.
Score: 0.078