Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

C Shaw-Smith · Journal of Medical Genetics · 2004 · 510 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

Elena V. Linardopoulou, Eleanor Williams, Yuxin Fan et al. · Nature · 2005 · 450 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A genome-wide comparison of recent chimpanzee and human segmental duplications

Ze Cheng, Mario Ventura, Xinwei She et al. · Nature · 2005 · 410 citations

Life Sciences, Genetics, Molecular Genetics +16

Rescue of the <i>En-1</i> Mutant Phenotype by Replacement of <i>En-1</i> with <i>En-2</i>

Mark C. Hanks, Wolfgang Wurst, Lynn Anson‐Cartwright et al. · Science · 1995 · 398 citations

Life Sciences, Genetics, Neuroscience +15