Prenatal Diagnosis · 2010 · 82 citations · 31 references
This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing.
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Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.3K citations · Full text
Douglas P. Murphy · Surgical Clinics of North America · 1953 · 1.1K citations
C Shaw-Smith · Journal of Medical Genetics · 2004 · 508 citations · Full text
Genetics, Learning Disability/mental Retardation, Disease Gene Identification +16
Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa et al. · The American Journal of Human Genetics · 2003 · 471 citations · Full text