References for Specific Topics
Baldwin EK, May LF, Justice AN, et al. Mechanisms and consequences of small supernumerary marker chromosomes. Am J Hum Genet. 2008;82:398–410.
Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management. Genet Med. 2011;13:770–776.
Dan S, Chen F, Choy KW, et al. Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS ONE. 2012;7:e27835.
Debatisse M, Le Tallec B, Letessier A, et al. Common fragile sites: mechanisms of instability revisited. Trends Genet. 2012;28:22–32.
Fantes JA, Boland E, Ramsay J, et al. FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet. 2008;82:916–926.
Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am J Hum Genet. 2009;84:524–533.
Green RC, Rehm HL, Kohane IS. Clinical genome sequencing. Ginsburg GS, Willard HF. Genomic and personalized medicine. ed 2. Elsevier: New York; 2013:102–122.
Higgins AW, Alkuraya FS, Bosco AF, et al. Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008;82:712–722.
Kearney HM, South ST, Wolff DJ, et al. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med. 2011;13:676–679.
Ledbetter DH, Riggs ER, Martin CL. Clinical applications of whole-genome chromosomal microarray analysis. Ginsburg GS, Willard HF. Genomic and personalized medicine. ed 2. Elsevier: New York; 2013:133–144.
Lee C. Structural genomic variation in the human genome. Ginsburg GS, Willard HF. Genomic and personalized medicine. ed 2. Elsevier: New York; 2013:123–132.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749–764.
Nagaoka SI, Hassold TJ, Hunt PA. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet. 2012;13:493–504.
Reddy UM, Page GP, Saade GR, et al. Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367:2185–2193.
Talkowski ME, Ernst C, Heilbut A, et al. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011;88:469–481.
