Emanuele Agolini

Emanuele Agolini

Ospedale Pediatrico Bambino Gesu - Rome / Italy
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4918009
person_outline Emanuele Agolini's MOST POPULAR ARTICLES
1-) Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaA Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ...The American Journal of Human Genetics 89 (2), 289-294, 20112322011
2-) p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasV Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ...European Journal of Human Genetics 23 (8), 1068-1071, 20151412015
3-) Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndromeF Brancati, P Fortugno, I Bottillo, M Lopez, E Josselin, ...The American Journal of Human Genetics 87 (2), 265-273, 20101072010
4-) COVID-19 and genetic variants of protein involved in the SARS-CoV-2 entry into the host cellsA Latini, E Agolini, A Novelli, P Borgiani, R Giannini, P Gravina, ...Genes 11 (9), 1010, 20201032020
5-) Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionM Zilmer, AC Edmondson, SA Khetarpal, V Alesi, MS Zaki, K Rostasy, ...Brain 143 (4), 1114-1126, 2020622020