MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

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

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

Life Sciences, Neurology, Neuroscience +14

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

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

Elisabeth Trivier, Dario De Cesare, Sylvie Jacquot et al. · Nature · 1996 · 399 citations

Life Sciences, Genetics, Molecular Genetics +6

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Kerstin Kutsche, Helger G. Yntema, Alexander Brandt et al. · Nature Genetics · 2000 · 374 citations

Life Sciences, Genetics, Molecular Genetics +9