Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark

Johannes Nielsen, M Wohlert · Human Genetics · 1991 · 1.2K citations

Life Sciences, Genetics, Pediatrics +16

Practice parameter: Evaluation of the child with global developmental delay [RETIRED]

Michael Shevell, Stephen Ashwal, Dorothy E. Donley et al. · Neurology · 2003 · 831 citations · Full text

Medicine, Genetics, Pediatrics +17

Diagnostic Genome Profiling in Mental Retardation

Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink et al. · The American Journal of Human Genetics · 2005 · 604 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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