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Main lines of research
• Williams-Beuren syndrome. Molecular basis and • Human genome plasticity and disease suscepti-
Research Groups
pathogenic mechanisms.
• Williams-Beuren syndrome. Mouse model gener- ation and analysis.
• Study of the genetic basis of autism spectrum disorders (ASD) and language specific impair- ment. Study of the microduplication 7q11.23 syn- drome.
• Clinical and therapeutic research into medical ge- netics: Williams-Beuren syndrome, novel genom- ic syndromes, autism and intelectual disability.
• •
bility.
Somatic mosaicism and chromosomal inver- sions. Mutational mechanisms and relationship with germline and somatic disease.
Development and validation of high-throughput technology for diagnostic applications in medical genetics.
Institution: Universidad Pompeu Fabra · Contact: Facultad de Ciencias Experimentales y de la Salud Dr. Aiguader, 88. 08003 Barcelona Tel.: 93 316 08 56 / 93 316 08 21 · E.mail: [email protected] Website: http://www.upf.edu/recerca/es/grups/ur-genetica.html
CIBERER I Annual report 2015 I 109
