Zuffardi, Orsetta

Formation of new chromatin domains determines pathogenicity of genomic duplications

Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., Kraft, K., Kempfer, R., Jerković, I., Chan, W.-L., et al. (2016) · Nature

Genomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome

Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

Bonaglia, M. C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., & Zuffardi, O. (2001) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesDNA Repair Mechanisms

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Bonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B.-M., Baroncini, A., Pramparo, T., & Zuffardi, O. (2006) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 211

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

Banfi, S., Borsani, G., Rossi, E., Bernard, L., Guffanti, A., Rubboli, F., Marchitiello, A., Giglio, S., Coluccia, E., Zollo, M., et al. (1996) · Nature Genetics

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 189

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 163

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Errichiello, E., Zagnoli-Vieira, G., Rizzi, R., Garavelli, L., Caldecott, K. W., & Zuffardi, O. (2020) · Journal of Human Genetics

Genetic Neurodegenerative DiseasesDNA Repair Mechanisms

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