SAU WAI CHEUNG to Gene Dosage
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Gene Dosage.
Connection Strength
2.026
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 2012 Nov; 13(4):333-9.
Score: 0.358
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Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86.
Score: 0.313
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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27; 4.
Score: 0.110
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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014 Nov 06; 95(5):565-78.
Score: 0.104
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Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med. 2014 Jul; 20(7):715-24.
Score: 0.101
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.097
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MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet. 2011 Apr; 19(4):409-15.
Score: 0.080
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Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 Oct 26; 5(10):e15392.
Score: 0.079
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.070
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34.
Score: 0.069
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.068
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The array CGH and its clinical applications. Drug Discov Today. 2008 Sep; 13(17-18):760-70.
Score: 0.067
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Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am J Hematol. 2008 Jul; 83(7):540-6.
Score: 0.067
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Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4):278-89.
Score: 0.066
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.060
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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Hum Genet. 2015 Nov; 134(11-12):1163-82.
Score: 0.028
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.
Score: 0.026
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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
Score: 0.024
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48.
Score: 0.024
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.022
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.021
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Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures. Clin Genet. 2011 Aug; 80(2):191-5.
Score: 0.019
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Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. Am J Med Genet A. 2010 Mar; 152A(3):732-6.
Score: 0.019
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet. 2009 Oct 01; 18(19):3579-93.
Score: 0.018
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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602.
Score: 0.018
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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res. 2009; 124(1):102-5.
Score: 0.018
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.017
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Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008 Jul 01; 146A(13):1729-35.
Score: 0.017
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Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
Score: 0.016
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.
Score: 0.015
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65.
Score: 0.015