Solexa publications – University of Copenhagen

Food, Fitness & Pharma > Publications > Solexa publications

Publications from Solexa

Solexa is a core facility of the UNIK - Food, Fitness & Pharma initiative.

Follow the links below to read the full text and summaries of the scientific papers published by the Solexa's scientists.

Original papers

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N. Eur J Hum Genet. 2012 Dec

Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes 12 and 18, with borderline IQ, developmental and behavioral disorders, myopia, obesity, and febrile seizures in childhood....

See full abstract