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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
Response to Cueto-González et al.
Zanoni P, Steindl K, Rauch A. Zanoni P, et al. Genet Med. 2022 Mar;24(3):757. doi: 10.1016/j.gim.2021.11.006. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906511 Free article. No abstract available.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Ziegler A, Steindl K, Hanner AS, Kar RK, Prouteau C, Boland A, Deleuze JF, Coubes C, Bézieau S, Küry S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D, Park MH. Ziegler A, et al. Among authors: zanoni p. Am J Hum Genet. 2022 Aug 4;109(8):1549-1558. doi: 10.1016/j.ajhg.2022.06.010. Epub 2022 Jul 19. Am J Hum Genet. 2022. PMID: 35858628 Free PMC article.
Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS. Borlin PR, et al. Among authors: zanoni p. Pediatr Blood Cancer. 2022 Oct;69(10):e29680. doi: 10.1002/pbc.29680. Epub 2022 Apr 4. Pediatr Blood Cancer. 2022. PMID: 35373906 No abstract available.
A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.
Khetarpal SA, Zeng X, Millar JS, Vitali C, Somasundara AVH, Zanoni P, Landro JA, Barucci N, Zavadoski WJ, Sun Z, de Haard H, Toth IV, Peloso GM, Natarajan P, Cuchel M, Lund-Katz S, Phillips MC, Tall AR, Kathiresan S, DaSilva-Jardine P, Yates NA, Rader DJ. Khetarpal SA, et al. Among authors: zanoni p. Nat Med. 2017 Sep;23(9):1086-1094. doi: 10.1038/nm.4390. Epub 2017 Aug 21. Nat Med. 2017. PMID: 28825717 Free PMC article.
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, Isaacs A, Jakobsdottir J, Feitosa MF, Davies G, Huffman JE, Manichaikul A, Davis B, Lohman K, Joon AY, Smith AV, Grove ML, Zanoni P, Redon V, Demissie S, Lawson K, Peters U, Carlson C, Jackson RD, Ryckman KK, Mackey RH, Robinson JG, Siscovick DS, Schreiner PJ, Mychaleckyj JC, Pankow JS, Hofman A, Uitterlinden AG, Harris TB, Taylor KD, Stafford JM, Reynolds LM, Marioni RE, Dehghan A, Franco OH, Patel AP, Lu Y, Hindy G, Gottesman O, Bottinger EP, Melander O, Orho-Melander M, Loos RJ, Duga S, Merlini PA, Farrall M, Goel A, Asselta R, Girelli D, Martinelli N, Shah SH, Kraus WE, Li M, Rader DJ, Reilly MP, McPherson R, Watkins H, Ardissino D; NHLBI GO Exome Sequencing Project; Zhang Q, Wang J, Tsai MY, Taylor HA, Correa A, Griswold ME, Lange LA, Starr JM, Rudan I, Eiriksdottir G, Launer LJ, Ordovas JM, Levy D, Chen YD, Reiner AP, Hayward C, Polasek O, Deary IJ, Borecki IB, Liu Y, Gudnason V, Wilson JG, van Duijn CM, Kooperberg C, Rich SS, Psaty BM, Rotter JI, O'Donnell CJ, Rice K, Boerwinkle E, Kathiresan S, Cupples LA. Peloso GM, et al. Among authors: zanoni p. Am J Hum Genet. 2014 Feb 6;94(2):223-32. doi: 10.1016/j.ajhg.2014.01.009. Am J Hum Genet. 2014. PMID: 24507774 Free PMC article.
VEGF-A Regulates Cellular Localization of SR-BI as Well as Transendothelial Transport of HDL but Not LDL.
Velagapudi S, Yalcinkaya M, Piemontese A, Meier R, Nørrelykke SF, Perisa D, Rzepiela A, Stebler M, Stoma S, Zanoni P, Rohrer L, von Eckardstein A. Velagapudi S, et al. Among authors: zanoni p. Arterioscler Thromb Vasc Biol. 2017 May;37(5):794-803. doi: 10.1161/ATVBAHA.117.309284. Epub 2017 Mar 30. Arterioscler Thromb Vasc Biol. 2017. PMID: 28360088 Free article.
Prevalence and causes of abnormal PSA recovery.
Lautenbach N, Müntener M, Zanoni P, Saleh L, Saba K, Umbehr M, Velagapudi S, Hof D, Sulser T, Wild PJ, von Eckardstein A, Poyet C. Lautenbach N, et al. Among authors: zanoni p. Clin Chem Lab Med. 2018 Jan 26;56(2):341-349. doi: 10.1515/cclm-2017-0246. Clin Chem Lab Med. 2018. PMID: 28763294 Free article.
49 results