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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: novelli a. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: novelli a. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, Villani A, Minervino D, Martinelli D, Rizzo C, Boenzi S, Panfili FM, Buonuomo PS, Macchiaiolo M, Bartuli A, Novelli A. Cocciadiferro D, et al. Among authors: novelli a. Front Genet. 2024 Jan 4;14:1307934. doi: 10.3389/fgene.2023.1307934. eCollection 2023. Front Genet. 2024. PMID: 38239854 Free PMC article.
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening.
Giannini R, Agolini E, Palumbo G, Novelli A, Garone G, Grasso M, Colafati GS, Matraxia M, Piccirilli E, Deodati A, Ceglie G. Giannini R, et al. Among authors: novelli a. Front Pediatr. 2024 Jan 12;12:1319885. doi: 10.3389/fped.2024.1319885. eCollection 2024. Front Pediatr. 2024. PMID: 38283630 Free PMC article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von… See abstract for full author list ➔ Matuozzo D, et al. Among authors: novelli g, novelli a. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Finocchi A, Pacillo L, Chiriaco M, Di Matteo G, Francalanci P, Angelino G, Caldaro T, Rivalta B, O'Mara M, Zhang S, Lepri FR, Novelli A, De Angelis P, Knaus UG, Rea F. Finocchi A, et al. Among authors: novelli a. Front Genet. 2023 Nov 23;14:1276697. doi: 10.3389/fgene.2023.1276697. eCollection 2023. Front Genet. 2023. PMID: 38075699 Free PMC article.
800 results