William Dobyns to Gene Deletion
This is a "connection" page, showing publications William Dobyns has written about Gene Deletion.
Connection Strength
0.945
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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: 0.325
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Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May; 13(5):e1006809.
Score: 0.137
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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: 0.100
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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: 0.076
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Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R89-96.
Score: 0.052
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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: 0.044
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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7.
Score: 0.040
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PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes Dev. 2018 06 01; 32(11-12):763-780.
Score: 0.037
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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: 0.034
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.026
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Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
Score: 0.020
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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: 0.020
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Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86.
Score: 0.017
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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med. 1998 Nov-Dec; 1(1):29-33.
Score: 0.009
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55.
Score: 0.008