William Dobyns to DNA Mutational Analysis
This is a "connection" page, showing publications William Dobyns has written about DNA Mutational Analysis.
Connection Strength
1.164
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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet. 2010 Feb; 47(2):81-90.
Score: 0.077
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No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 2008 May 01; 146A(9):1142-50.
Score: 0.072
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33.
Score: 0.068
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Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21.
Score: 0.061
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A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.060
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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001 Jan; 9(1):5-12.
Score: 0.043
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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: 0.039
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.
Score: 0.036
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.035
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51.
Score: 0.031
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25.
Score: 0.031
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.030
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015 Mar; 56(3):422-30.
Score: 0.029
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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: 0.028
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.026
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PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
Score: 0.025
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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: 0.023
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 08; 88(4):499-507.
Score: 0.022
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
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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Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
Score: 0.020
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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009 Jun; 46(6):389-98.
Score: 0.019
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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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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: 0.019
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The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr; 46(4):249-53.
Score: 0.019
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41.
Score: 0.019
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.018
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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12; 70(7):556-65.
Score: 0.018
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Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7.
Score: 0.015
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.015
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
Score: 0.015
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.
Score: 0.014
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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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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6.
Score: 0.014
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
Score: 0.013
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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: 0.013
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.013
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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: 0.013
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606.
Score: 0.013
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43.
Score: 0.012
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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83.
Score: 0.011
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81.
Score: 0.010
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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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Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 1999 May 21; 84(2):137-44.
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