SAU WAI CHEUNG to Karyotyping
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Karyotyping.
Connection Strength
1.738
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Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory. Hum Genet. 2025 Dec; 144(11-12):1269-1276.
Score: 0.223
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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: 0.180
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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: 0.091
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Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. Am J Med Genet A. 2011 Jun; 155A(6):1465-8.
Score: 0.082
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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.
Score: 0.077
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Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul; 76(1):54-62.
Score: 0.072
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Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. Am J Med Genet A. 2008 Oct 01; 146A(19):2480-9.
Score: 0.068
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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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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.
Score: 0.067
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WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Am J Med Genet A. 2006 Jun 01; 140(11):1214-8.
Score: 0.058
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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am J Med Genet A. 2005 Aug 15; 137(1):88-93.
Score: 0.055
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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: 0.054
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Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet A. 2005 May 01; 134(4):430-3.
Score: 0.054
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Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998.
Score: 0.039
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Deciphering the complexity of simple chromosomal insertions by genome sequencing. Hum Genet. 2021 Feb; 140(2):361-380.
Score: 0.039
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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: 0.037
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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: 0.036
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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: 0.032
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6.
Score: 0.032
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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: 0.028
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Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014 Mar; 43(3):254-64.
Score: 0.025
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Chromosome analysis in spontaneous pregnancy loss: use of placental villus mesodermal core cell cultures. Am J Med Genet. 1992 Apr 01; 42(6):785-8.
Score: 0.022
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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: 0.020
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OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11.
Score: 0.019
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Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet Cell Genet. 1990; 54(3-4):97-102.
Score: 0.019
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar; 47(3):155-61.
Score: 0.018
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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
Score: 0.018
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Direct preparations from chorionic villi--relationship between villous morphology and mitotic index. Prenat Diagn. 1989 Jun; 9(6):385-91.
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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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet A. 2009 Mar; 149A(3):396-402.
Score: 0.018
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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: 0.017
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Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat Diagn. 1988 Nov; 8(9):677-82.
Score: 0.017
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.017
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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.
Score: 0.017
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Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered. 2008 Sep-Oct; 99(5):512-7.
Score: 0.017
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
Score: 0.015
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Direct chromosome preparations from chorionic villi: a method for obtaining extended chromosomes and recognizing mosaicism confined to the placenta. Cytogenet Cell Genet. 1987; 45(2):118-20.
Score: 0.015
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Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation. Am J Med Genet A. 2006 Jun 01; 140(11):1156-63.
Score: 0.015
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Use of trophoblast cells in tissue culture for fetal chromosomal studies. Am J Obstet Gynecol. 1983 Nov 01; 147(5):542-7.
Score: 0.012
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Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study. Genet Med. 1999 Mar-Apr; 1(3):94-7.
Score: 0.009