Simpson-Golabi-Behmel syndrome in a female : a case report and an unsolved issue
Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G. 2017.
Am J Med Genet Part A 173:285-288.
Guidelines reccomendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
Rinaldi B, Vaisfeld A (co-authors), Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M. 2017.
Orphanet J Rare Dis 11;12(1):69.
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M. 2017.
Am J Med Genet A 176(2):455-459.
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
Vaisfeld A, Calicchia M, Pomponi MG, Lucci-Cordisco E, Reggiani-Bonetti L, Genuardi M. 2019.
Fam Cancer. doi : 10.1007/s10689-019-00139-3.
Cromosome 14 deletions, rings and epilepsy genes: a riddle wrapped in a mystery inside an enigma
Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G.
Epilepsia. 2021 Jan;62(1):25-40. doi: 10.1111/epi.16754. Epub 2020 Nov 17.
Neuroacanthocytosis in an Italian cohort: clinical spectrum, high genetic variability and muscle involvement
Vaisfeld A, Bruno G, Petracca M, Bentivoglio A, Servidei S, Vita MG, Bove F, Straccia G, Dato C, Di Iorio G, Sampaolo S, Peluso S, De Rosa A, De Michele G, Barghigiani M, Galatolo D, Tessa A, Santorelli FM, Chiurazzi P, Melone M.
Genes (Basel). 2021 Feb 26;12(3):344. doi: 10.3390/genes12030344.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E.
Eur J Pediatr. 2022 May 6. doi: 10.1007/s00431-022-04470-3.
