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Year Number of Results
2015 1
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2017 1
2018 1
2019 2
2020 3
2021 2
2022 3
2023 2
2024 2

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Page 1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Among authors: severi g. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Diquigiovanni C, Rizzardi N, Kampmeier A, Liparulo I, Bianco F, De Nicolo B, Cataldi-Stagetti E, Cuna E, Severi G, Seri M, Bertrand M, Haack TB, Marina AD, Braun F, Fato R, Kuechler A, Bergamini C, Bonora E. Diquigiovanni C, et al. Among authors: severi g. Open Biol. 2023 Jul;13(7):230040. doi: 10.1098/rsob.230040. Epub 2023 Jul 12. Open Biol. 2023. PMID: 37433330 Free PMC article.
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: severi g. 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.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch N, Dahan I, D'haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. Hirsch N, et al. Among authors: severi g. Genome Res. 2022 Jul;32(7):1242-1253. doi: 10.1101/gr.276196.121. Epub 2022 Jun 16. Genome Res. 2022. PMID: 35710300 Free PMC article.
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L. Scarano E, et al. Among authors: severi g. Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15. Mol Syndromol. 2019. PMID: 31191201 Free PMC article.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: severi g. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
15 results