reviewTop 1% cited

Genome architecture, rearrangements and genomic disorders

Trends in Genetics · 2002 · Vol. 18(2) · pp. 74–82

Paweł Stankiewicz✉(Baylor College of Medicine)James R. Lupski(Baylor College of Medicine)

Chromosomal and Genetic Variations Genomic variations and chromosomal abnormalities Genomics and Rare DiseasesBiologyNon-allelic homologous recombinationGeneticsHomologous recombinationGenomegenomic DNAGene duplicationGene rearrangementSegmental duplicationGenome instability

MeSH terms

BehaviorDiGeorge SyndromeGenetic TechniquesHumansPrader-Willi SyndromeSequence Homology, Nucleic AcidX ChromosomeY ChromosomeGene RearrangementGenome, HumanWilliams SyndromeGenetic Diseases, Inborn

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919

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size