No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Chromatin, Genome Instability, Transcriptional Regulation +11

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

Sherman Paradox, Genome Instability, Genetic Instability +12

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

Phenotypic Expression, Epigenetic Change, Genetics +16

A Genomic Screen of Autism: Evidence for a Multilocus Etiology

Neil Risch, Donna Spiker, Linda Lotspeich et al. · The American Journal of Human Genetics · 1999 · 687 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +8

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

Anthony Bailey, Amaia Hervás, Nicola Matthews et al. · Human Molecular Genetics · 1998 · 539 citations · Full text