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Page 1
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: novelli a. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D. Bensaid S, et al. Among authors: novelli a. Am J Med Genet A. 2024 Jul;194(7):e63580. doi: 10.1002/ajmg.a.63580. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511524 Review.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: novelli a. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jav… See abstract for full author list ➔ Cali E, et al. Among authors: novelli a. Genet Med. 2025 Apr;27(4):101251. doi: 10.1016/j.gim.2024.101251. Epub 2024 Sep 17. Genet Med. 2025. PMID: 39275948 Free article.
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Vecchio D, Panfili FM, Macchiaiolo M, Dentici ML, Trivisano M, Medina CB, Capolino R, Salzano E, Cortellessa F, Busè M, Pantaleo A, Cocciadiferro D, Gonfiantini MV, Niceta M, De Dominicis A, Specchio N, Piccione M, Digilio MC, Tartaglia M, Novelli A, Bartuli A. Vecchio D, et al. Among authors: novelli a. Eur J Med Genet. 2025 Feb;73:104990. doi: 10.1016/j.ejmg.2024.104990. Epub 2024 Dec 19. Eur J Med Genet. 2025. PMID: 39709003 Free article.
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, Coury SA, Woerner AC, Sebastian J, Levy PA, Fleming LR, Waffenschmidt L, Lindenberg TT, Yilmaz Ö, Channab K, Babra BK, Christ A, Eiberger B, Hölzel S, Vidic C, Häberlein F, Ishorst N, Rodriguez-Gatica JE, Pezeshkpoor B, Kupczyk PA, Vanakker OM, Loddo S, Novelli A, Dentici ML, Becker A, Thiele H, Posey JE, Lupski JR, Hilger AC, Reutter HM, Merz WM, Dworschak GC, Odermatt B. Kalanithy JC, et al. Among authors: novelli a. J Med Genet. 2025 Jan 27;62(2):126-137. doi: 10.1136/jmg-2023-109799. J Med Genet. 2025. PMID: 39715634 Free PMC article.
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Dominicis A, Sparascio FP, Stregapede F, Terracciano A, Verrigni D, Lepri FR, Cetola S, Dentici ML, Vigevano F, Novelli A, Specchio N, Trivisano M, Digilio MC. Dominicis A, et al. Among authors: novelli a. Am J Med Genet A. 2025 Jun;197(6):e64010. doi: 10.1002/ajmg.a.64010. Epub 2025 Jan 31. Am J Med Genet A. 2025. PMID: 39890443 Review.
Case report: Clinical and genetic features of pediatric choroidal melanoma.
Valente P, Galardi A, Di Giannatale A, Romanzo A, Novelli A, Orlando V, Colletti M, Russo I, De Vito R, Iarossi G, Petroni S, Sinibaldi L, Buzzonetti L. Valente P, et al. Among authors: novelli a. Front Med (Lausanne). 2025 Mar 13;11:1480111. doi: 10.3389/fmed.2024.1480111. eCollection 2024. Front Med (Lausanne). 2025. PMID: 40151649 Free PMC article.
874 results