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Open AccessFunctional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants
Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (> 200 ASD-risk genes), no single gene variant accounts...
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Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling
Advances in genome-based microarray and sequencing technologies hold tremendous promise for understanding, better-managing and/or preventing disease and disease-related risk. Chromosome microarray technology (...
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Open AccessNSD1 mutations generate a genome-wide DNA methylation signature
Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1
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Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual fac...
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Alström syndrome: further evidence for linkage to human chromosome 2p13
Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. The gene for Alströ...
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Complementation and Gene Transfer Studies in Fanconi Anemia
Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, a complex assortment of congenital malformations and an increased incidence of cancer (Fanconi 1967; German 1972). At the c...
