Connection

SAU WAI CHEUNG to Oligonucleotide Array Sequence Analysis

This is a "connection" page, showing publications SAU WAI CHEUNG has written about Oligonucleotide Array Sequence Analysis.
  1. Novel applications of array comparative genomic hybridization in molecular diagnostics. Expert Rev Mol Diagn. 2018 06; 18(6):531-542.
    View in: PubMed
    Score: 0.453
  2. Application of DNA Microarray to Clinical Diagnostics. Methods Mol Biol. 2016; 1368:111-32.
    View in: PubMed
    Score: 0.383
  3. Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. Crit Rev Clin Lab Sci. 2014 Oct; 51(5):249-62.
    View in: PubMed
    Score: 0.343
  4. 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.
    View in: PubMed
    Score: 0.310
  5. 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.
    View in: PubMed
    Score: 0.247
  6. 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.
    View in: PubMed
    Score: 0.231
  7. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am J Med Genet A. 2008 Aug 01; 146A(15):1986-93.
    View in: PubMed
    Score: 0.229
  8. 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.
    View in: PubMed
    Score: 0.228
  9. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
    View in: PubMed
    Score: 0.214
  10. Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Rev Mol Diagn. 2005 Nov; 5(6):883-92.
    View in: PubMed
    Score: 0.190
  11. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 2012 Nov; 13(4):333-9.
    View in: PubMed
    Score: 0.076
  12. 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.
    View in: PubMed
    Score: 0.074
  13. Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
    View in: PubMed
    Score: 0.073
  14. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
    View in: PubMed
    Score: 0.068
  15. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011 Jan; 19(1):43-9.
    View in: PubMed
    Score: 0.066
  16. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A. 2010 Jul; 152A(7):1832-7.
    View in: PubMed
    Score: 0.065
  17. 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.
    View in: PubMed
    Score: 0.060
  18. Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features. Am J Med Genet A. 2008 Sep 15; 146A(18):2361-9.
    View in: PubMed
    Score: 0.058
  19. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am J Med Genet A. 2008 Aug 01; 146A(15):1933-41.
    View in: PubMed
    Score: 0.057
  20. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
    View in: PubMed
    Score: 0.057
  21. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4):278-89.
    View in: PubMed
    Score: 0.056
  22. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8.
    View in: PubMed
    Score: 0.055
  23. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
    View in: PubMed
    Score: 0.054
  24. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
    View in: PubMed
    Score: 0.054
  25. 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.
    View in: PubMed
    Score: 0.053
  26. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
    View in: PubMed
    Score: 0.052
  27. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48.
    View in: PubMed
    Score: 0.050
  28. Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 03; 71(1):141-154.
    View in: PubMed
    Score: 0.045
  29. Microarray analysis: First-trimester maternal serum free ?-hCG and the risk of significant copy number variants. Prenat Diagn. 2018 11; 38(12):971-978.
    View in: PubMed
    Score: 0.029
  30. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50.
    View in: PubMed
    Score: 0.025
  31. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
    View in: PubMed
    Score: 0.020
  32. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
    View in: PubMed
    Score: 0.019
  33. 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.
    View in: PubMed
    Score: 0.018
  34. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 Oct 26; 5(10):e15392.
    View in: PubMed
    Score: 0.017
  35. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
    View in: PubMed
    Score: 0.017
  36. 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.
    View in: PubMed
    Score: 0.017
  37. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5):1042-51.
    View in: PubMed
    Score: 0.016
  38. 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.
    View in: PubMed
    Score: 0.016
  39. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
    View in: PubMed
    Score: 0.015
  40. 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.
    View in: PubMed
    Score: 0.015
  41. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8.
    View in: PubMed
    Score: 0.015
  42. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8.
    View in: PubMed
    Score: 0.015
  43. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn. 2008 Oct; 28(10):943-9.
    View in: PubMed
    Score: 0.014
  44. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
    View in: PubMed
    Score: 0.014
  45. Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008 Jul 01; 146A(13):1729-35.
    View in: PubMed
    Score: 0.014
  46. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
    View in: PubMed
    Score: 0.014
  47. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem. 2008 May; 56(5):487-93.
    View in: PubMed
    Score: 0.014
  48. A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A. 2007 Aug 15; 143A(16):1885-9.
    View in: PubMed
    Score: 0.013
  49. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
    View in: PubMed
    Score: 0.013
  50. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91.
    View in: PubMed
    Score: 0.012
Connection Strength

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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.