William Dobyns to Models, Molecular
This is a "connection" page, showing publications William Dobyns has written about Models, Molecular.
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 03; 94(4):634-41.
Score: 0.088
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
Score: 0.036
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.029
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017 Sep 01; 140(9):2322-2336.
Score: 0.028
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54.
Score: 0.025
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15; 24(18):5313-25.
Score: 0.024
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015 Mar; 56(3):422-30.
Score: 0.023
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.021
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 08; 88(4):499-507.
Score: 0.018
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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: 0.017
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.013