William Dobyns to Gene Duplication
This is a "connection" page, showing publications William Dobyns has written about Gene Duplication.
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52.
Score: 0.435
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Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. Eur J Pediatr. 2010 Apr; 169(4):475-81.
Score: 0.337
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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: 0.079
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Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003 Jul 22; 61(2):267-76.
Score: 0.055
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.024
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Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009 Dec; 2(6):359-64.
Score: 0.021
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep; 41(9):1037-42.
Score: 0.021
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.019