Simone Pizzi

Simone Pizzi

Ospedale Pediatrico Bambino Gesu - / Italy
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4928188
person_outline Simone Pizzi's MOST POPULAR ARTICLES
1-) Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disordersE Aref-Eshghi, J Kerkhof, VP Pedro, GDI France, M Barat-Houari, ...The American Journal of Human Genetics 106 (3), 356-370, 20201212020
2-) Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseasesL Grassi, R Alfonsi, F Francescangeli, M Signore, ML De Angelis, ...Cell death & disease 10 (3), 1-15, 2019852019
3-) Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...Human Genetics and Genomics Advances 3 (1), 2022902022
4-) Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndromeCK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ...The American Journal of Human Genetics 103 (4), 621-630, 20181032018
5-) Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesB Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...European Journal of Human Genetics 29 (9), 1325-1331, 2021832021