SAU WAI CHEUNG to Chromosome Disorders
This is a "connection" page, showing publications SAU WAI CHEUNG has written about Chromosome Disorders.
Connection Strength
3.077
-
Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. 2015 Apr 23; 372(17):1675-7.
Score: 0.385
-
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: 0.301
-
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: 0.244
-
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: 0.201
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32.
Score: 0.196
-
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.128
-
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: 0.117
-
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: 0.115
-
Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209.
Score: 0.115
-
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: 0.115
-
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: 0.111
-
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.
Score: 0.105
-
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707.
Score: 0.100
-
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: 0.089
-
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: 0.088
-
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.084
-
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.081
-
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: 0.078
-
Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.077
-
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
Score: 0.072
-
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1924-36.
Score: 0.063
-
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
Score: 0.059
-
Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding. Prenat Diagn. 1990 Nov; 10(11):717-24.
Score: 0.018
-
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.017
-
OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11.
Score: 0.017
-
Exclusion of chromosomal mosaicism in amniotic fluid cultures: efficacy of in situ versus flask techniques. Prenat Diagn. 1990 Jan; 10(1):41-57.
Score: 0.017
-
Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat Diagn. 1988 Nov; 8(9):677-82.
Score: 0.015
-
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: 0.015
-
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: 0.015
-
Chromosome mosaicism and maternal cell contamination in chorionic villi. Prenat Diagn. 1987 Oct; 7(8):535-42.
Score: 0.014
-
Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 1985 Oct; 4(10):519-24.
Score: 0.012
-
High resolution R banding in amniotic fluid cells using the BrdU-Hoechst 33258-Giemsa (RBG) technique. Hum Genet. 1985; 69(1):86-7.
Score: 0.012