William Dobyns to Brain Diseases
This is a "connection" page, showing publications William Dobyns has written about Brain Diseases.
Connection Strength
4.383
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 10 01; 93(14):e1360-e1373.
Score: 0.645
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Score: 0.286
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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: 0.207
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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 2001 Aug 14; 57(3):416-22.
Score: 0.185
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 06 22; 144(5):1435-1450.
Score: 0.183
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DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899.
Score: 0.179
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Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today. 2000 Jul; 6(7):277-84.
Score: 0.171
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X-linked malformations of cortical development. Am J Med Genet. 2000; 97(3):213-20.
Score: 0.165
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Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet. 1999 Dec 22; 87(5):440-5.
Score: 0.165
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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: 0.160
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Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477.
Score: 0.149
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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: 0.140
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 07; 54(7):460-470.
Score: 0.136
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Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. J Pediatr. 2016 Nov; 178:233-240.e10.
Score: 0.131
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Absence makes the search grow longer. Am J Hum Genet. 1996 Jan; 58(1):7-16.
Score: 0.125
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The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. Am J Med Genet A. 2014 Jun; 164A(6):1503-11.
Score: 0.111
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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013 Jul; 161A(7):1523-30.
Score: 0.104
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Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91) Brain Dev. 1993 May-Jun; 15(3):242-4.
Score: 0.104
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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. Am J Med Genet A. 2010 Aug; 152A(8):2079-84.
Score: 0.086
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb; 149A(2):129-37.
Score: 0.077
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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A. 2008 Dec 15; 146A(24):3173-80.
Score: 0.077
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
Score: 0.075
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.063
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
Score: 0.062
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6.
Score: 0.056
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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet. 2003 Dec; 40(12):e128.
Score: 0.054
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul; 34(3):274-85.
Score: 0.053
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.053
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Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 2001 Jul 24; 57(2):327-30.
Score: 0.046
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul; 48(1):39-48.
Score: 0.043
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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53.
Score: 0.039
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
Score: 0.038
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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Hum Mutat. 2018 08; 39(8):1076-1080.
Score: 0.037
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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 1997 Oct; 49(4):1042-7.
Score: 0.035
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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: 0.035
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 1993 Dec 15; 270(23):2838-42.
Score: 0.027
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Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum Genet. 1990 Oct; 85(5):555-9.
Score: 0.022
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44.
Score: 0.017
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Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser. 1987; 23(1):225-41.
Score: 0.017
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.015
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Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc. 1979 Jan; 54(1):35-42.
Score: 0.010