A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa et al. · The American Journal of Human Genetics · 2003 · 473 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

P. A. Jacobs, C.E. Browne, N. Gregson et al. · Journal of Medical Genetics · 1992 · 419 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

J. Britt Ravnan · Journal of Medical Genetics · 2005 · 412 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto et al. · The American Journal of Human Genetics · 2001 · 398 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16