William Dobyns to Chromosome Aberrations
This is a "connection" page, showing publications William Dobyns has written about Chromosome Aberrations.
Connection Strength
1.230
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54.
Score: 0.292
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Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72.
Score: 0.159
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Absence makes the search grow longer. Am J Hum Genet. 1996 Jan; 58(1):7-16.
Score: 0.123
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45.
Score: 0.090
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Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep; 152A(9):2145-59.
Score: 0.085
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.076
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet. 2008 Nov 15; 17(22):3446-58.
Score: 0.074
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.072
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Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr; 102(4):552-8.
Score: 0.051
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet. 2001 Jan; 38(1):26-34.
Score: 0.043
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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: 0.041
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.030
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014 Jan; 164A(1):120-8.
Score: 0.027
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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet. 1986 Apr; 23(4):853-9.
Score: 0.016
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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet. 1984 Jul; 18(3):509-26.
Score: 0.014
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
Score: 0.013
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet. 1997 Aug; 61(2):379-87.
Score: 0.009
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996 Oct; 38(7):684-7.
Score: 0.008
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A classification scheme for malformations of cortical development. Neuropediatrics. 1996 Apr; 27(2):59-63.
Score: 0.008