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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: greco d. Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Nat Commun. 2020. PMID: 33004838 Free PMC article.
What syndrome is this? Lesch-Nyhan syndrome.
Schepis C, Greco D, Siragusa M, Romano C. Schepis C, et al. Among authors: greco d. Pediatr Dermatol. 1996 Mar-Apr;13(2):169-70. doi: 10.1111/j.1525-1470.1996.tb01428.x. Pediatr Dermatol. 1996. PMID: 9122079 No abstract available.
An intriguing case of LEOPARD syndrome.
Schepis C, Greco D, Siragusa M, Batolo D, Romano C. Schepis C, et al. Among authors: greco d. Pediatr Dermatol. 1998 Mar-Apr;15(2):125-8. doi: 10.1046/j.1525-1470.1998.1998015125.x. Pediatr Dermatol. 1998. PMID: 9572697
Cardiofaciocutaneous (CFC) syndrome.
Schepis C, Greco D, Romano C. Schepis C, et al. Among authors: greco d. Australas J Dermatol. 1999 May;40(2):111-3. doi: 10.1046/j.1440-0960.1999.00333.x. Australas J Dermatol. 1999. PMID: 10333626
Rubinstein-Taybi syndrome with epidermal nevus: a case report.
Schepis C, Greco D, Siragusa M, Batolo D, Romano C. Schepis C, et al. Among authors: greco d. Pediatr Dermatol. 2001 Jan-Feb;18(1):34-7. doi: 10.1046/j.1525-1470.2001.018001034.x. Pediatr Dermatol. 2001. PMID: 11207968
690 results