William Dobyns to Exons
This is a "connection" page, showing publications William Dobyns has written about Exons.
Connection Strength
0.264
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Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003 Jul 22; 61(2):267-76.
Score: 0.051
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov; 164A(11):2879-86.
Score: 0.027
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47.
Score: 0.024
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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011 Oct; 155A(10):2516-20.
Score: 0.022
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WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet. 2010 Nov; 42(11):1010-4.
Score: 0.021
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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: 0.020
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Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2):e4582.
Score: 0.019
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
Score: 0.014
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Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul; 19(7):845-847.
Score: 0.014
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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12; 9(20):3019-28.
Score: 0.011
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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999 Sep; 8(9):1757-60.
Score: 0.010
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.009
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64.
Score: 0.008
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Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux. Nat Genet. 1996 May; 13(1):129.
Score: 0.008
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995 Apr; 9(4):358-64.
Score: 0.007