William Dobyns to Classical Lissencephalies and Subcortical Band Heterotopias
This is a "connection" page, showing publications William Dobyns has written about Classical Lissencephalies and Subcortical Band Heterotopias.
Connection Strength
1.655
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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: 0.369
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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: 0.223
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Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.
Score: 0.207
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.
Score: 0.185
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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: 0.180
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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: 0.163
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.152
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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: 0.090
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
Score: 0.085