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

Year Number of Results
2007 1
2008 3
2010 2
2011 3
2012 2
2013 2
2014 2
2015 2
2016 6
2017 4
2018 3
2019 6
2020 6
2021 3
2022 2
2023 6
2024 1

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48 results

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Page 1
Esrrb guides naive pluripotent cells through the formative transcriptional programme.
Carbognin E, Carlini V, Panariello F, Chieregato M, Guerzoni E, Benvegnù D, Perrera V, Malucelli C, Cesana M, Grimaldi A, Mutarelli M, Carissimo A, Tannenbaum E, Kugler H, Hackett JA, Cacchiarelli D, Martello G. Carbognin E, et al. Among authors: mutarelli m. Nat Cell Biol. 2023 May;25(5):643-657. doi: 10.1038/s41556-023-01131-x. Epub 2023 Apr 27. Nat Cell Biol. 2023. PMID: 37106060 Free PMC article.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression.
Pasquier A, Pastore N, D'Orsi L, Colonna R, Esposito A, Maffia V, De Cegli R, Mutarelli M, Ambrosio S, Tufano G, Grimaldi A, Cesana M, Cacchiarelli D, Delalleau N, Napolitano G, Ballabio A. Pasquier A, et al. Among authors: mutarelli m. EMBO J. 2023 Nov 2;42(21):e113928. doi: 10.15252/embj.2023113928. Epub 2023 Sep 15. EMBO J. 2023. PMID: 37712288 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Triple Vectors Expand AAV Transfer Capacity in the Retina.
Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, Rossi S, Simonelli F, Naggert JK, Cacchiarelli D, Auricchio A. Maddalena A, et al. Among authors: mutarelli m. Mol Ther. 2018 Feb 7;26(2):524-541. doi: 10.1016/j.ymthe.2017.11.019. Epub 2017 Dec 5. Mol Ther. 2018. PMID: 29292161 Free PMC article.
Comprehensive kinome NGS targeted expression profiling by KING-REX.
Carapezza G, Cusi C, Rizzo E, Raddrizzani L, Di Bella S, Somaschini A, Leone A, Lupi R, Mutarelli M, Nigro V, di Bernardo D, Magni P, Isacchi A, Bosotti R. Carapezza G, et al. Among authors: mutarelli m. BMC Genomics. 2019 Apr 23;20(1):307. doi: 10.1186/s12864-019-5676-3. BMC Genomics. 2019. PMID: 31014245 Free PMC article.
48 results