Prontera, Paolo

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Adamo, A., Atashpaz, S., Germain, P.-L., Zanella, M., D'Agostino, G., Albertin, V., Chenoweth, J., Micale, L., Fusco, C., Unger, C., et al. (2015) · Nature Genetics

Williams Syndrome ResearchPluripotent Stem Cells Research

Cited by 129

Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 90

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects

de Filippis, T., Marelli, F., Nebbia, G., Porazzi, P., Corbetta, S., Fugazzola, L., Gastaldi, R., Vigone, M. C., Biffanti, R., Frizziero, D., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsDevelopmental Biology and Gene Regulation

Cited by 70