SAU WAI CHEUNG to Chromosome Aberrations
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Chromosome Aberrations.
Connection Strength
6.046
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Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. 2015 Apr 23; 372(17):1675-7.
Score: 0.375
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7.
Score: 0.320
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Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011 Oct; 155A(10):2589-92.
Score: 0.293
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Introductory comments on special section-genomic microduplications: When adding may equal subtracting. Am J Med Genet A. 2010 May; 152A(5):1063-5.
Score: 0.267
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Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet A. 2010 May; 152A(5):1089-100.
Score: 0.267
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.257
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Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting. Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Aug 18; 41(4):500-4.
Score: 0.254
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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: 0.238
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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: 0.235
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41.
Score: 0.219
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Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Rev Mol Diagn. 2005 Nov; 5(6):883-92.
Score: 0.195
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32.
Score: 0.191
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 06; 60(6):547-556.
Score: 0.157
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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. Am J Hum Genet. 2019 12 05; 105(6):1102-1111.
Score: 0.129
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Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genet Med. 2020 03; 22(3):500-510.
Score: 0.127
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.124
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Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2018 01 24; 96:8.18.1-8.18.16.
Score: 0.114
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Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 06; 38(6):669-677.
Score: 0.108
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.107
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Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446.
Score: 0.105
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Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype. Am J Perinatol. 2017 03; 34(4):340-348.
Score: 0.103
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.086
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
Score: 0.074
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
Score: 0.073
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Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab. 2011 Apr; 96(4):E674-9.
Score: 0.070
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Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding. Prenat Diagn. 1990 Nov; 10(11):717-24.
Score: 0.069
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Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn. 2010 Sep; 12(5):670-9.
Score: 0.068
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.067
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Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10.
Score: 0.067
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Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J Urol. 2010 Apr; 183(4):1636-42.
Score: 0.066
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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8.
Score: 0.066
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Exclusion of chromosomal mosaicism in amniotic fluid cultures: efficacy of in situ versus flask techniques. Prenat Diagn. 1990 Jan; 10(1):41-57.
Score: 0.065
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.065
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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: 0.062
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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37.
Score: 0.062
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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8.
Score: 0.060
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Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat Diagn. 1988 Nov; 8(9):677-82.
Score: 0.060
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First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial. Prenat Diagn. 1988 Jun; 8(5):355-66.
Score: 0.058
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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
Score: 0.058
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Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet A. 2007 Dec 15; 143A(24):2910-5.
Score: 0.057
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Chromosome mosaicism and maternal cell contamination in chorionic villi. Prenat Diagn. 1987 Oct; 7(8):535-42.
Score: 0.056
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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: 0.056
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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
Score: 0.055
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.
Score: 0.052
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A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features. Am J Med Genet A. 2006 Sep 01; 140A(17):1864-70.
Score: 0.052
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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48.
Score: 0.052
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Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 1985 Oct; 4(10):519-24.
Score: 0.049
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High resolution R banding in amniotic fluid cells using the BrdU-Hoechst 33258-Giemsa (RBG) technique. Hum Genet. 1985; 69(1):86-7.
Score: 0.046
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Score: 0.031
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2018 07; 20(7):697-707.
Score: 0.028
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. Am J Hum Genet. 2016 09 01; 99(3):555-566.
Score: 0.026
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Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016 10; 18(10):1052-5.
Score: 0.025
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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: 0.019
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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307.
Score: 0.018
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Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77.
Score: 0.015
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An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn. 1988 Feb; 8(2):119-29.
Score: 0.014
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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: 0.013