Reciprocal translocations: a trap for cytogenetists?

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

Life Sciences, Bioinformatics, Genetics +14

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Vanja A. Holm, Suzanne B. Cassidy, Merlin G. Butler et al. · PEDIATRICS · 1993 · 1.3K citations · Full text

Medicine, Molecular Genetics, Pediatrics +11

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Dorothy Warburton · PubMed · 1991 · 680 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

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