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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 4
2004 3
2005 5
2006 1
2007 1
2008 3
2009 3
2010 5
2011 8
2012 5
2013 6
2014 8
2015 13
2016 15
2017 14
2018 16
2019 13
2020 23
2021 26
2022 25
2023 38
2024 15

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224 results

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Page 1
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: nigro v. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: nigro v. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: nigro v. Genet Med. 2024 Feb 5;26(5):101097. doi: 10.1016/j.gim.2024.101097. Online ahead of print. Genet Med. 2024. PMID: 38334070 Free article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: nigro v. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: nigro v. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: nigro v. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Coratti G, Pane M, Brogna C, D'Amico A, Pegoraro E, Bello L, Sansone VA, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Sframeli M, Catteruccia M, Cicala G, Capasso A, Ricci M, Frosini S, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Scutifero M, Gardani A, Pini A, Monaco G, D'Angelo MG, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci F, Berardinelli A, Battini R, Masson R, Baranello G, Dosi C, Bertini E, Nigro V, Politano L, Mercuri E. Coratti G, et al. Among authors: nigro v. Neuromuscul Disord. 2024 Jan;34:75-82. doi: 10.1016/j.nmd.2023.11.011. Epub 2023 Dec 3. Neuromuscul Disord. 2024. PMID: 38157655 Free article.
224 results