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RESEARCH GROUPS
Group U735
Programme: Paediatric and Developmental Medicine
Lead Researcher: Pérez Jurado, Luis A. Group Members
STAFF MEMBERS: Cusco Martí, Ivon | Gutiérrez Arumi, Armand | Serra Juhe, Clara ASSOCIATED MEMBERS: Campuzano Uceda, Victoria | Del Campo Casanelles, Miguel | Flores Peirats, Ra-
quel | Palacios Verdú, María Gabriela | Pérez García, Débora | Rodríguez Santiago, Benjamín
Main lines of research
• Williams-Beuren syndrome . Molecular basis and pathogenic mechanisms .
• Williams-Beuren syndrome . Mouse model generation and analysis .
• Study of the genetic basis of autism spectrum disorders (ASD) and language specific impairment . Stu- dy of the microduplication 7q11 .23 syndrome .
• Clinical and therapeutic research into medical genetics: Williams-Beuren syndrome, novel genomic syndromes, autism and intelectual disability .
• Human genome plasticity and disease susceptibility . • Somatic mosaicism and chromosomal inversions . Mutational mechanisms and relationship with ger-
mline and somatic disease .
• Development and validation of high-throughput technology for diagnostic applications in medical genetics .
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