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Year Number of Results
2001 1
2004 1
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2008 1
2009 1
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2011 3
2012 4
2013 3
2014 7
2015 5
2016 3
2017 9
2018 4
2019 9
2020 3
2021 8
2022 10
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2025 8
2026 5

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92 results

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Page 1
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.
Cerminara M, Spirito G, Pandolfini L, Boeri S, Rosti G, Mancardi M, Pisciotta L, Fontana M, Bianchi A, Chen I, Ferrera L, Caroli F, Di Duca M, Cavalli A, Divizia MT, De Grandis E, Casabona S, Trova S, Vozzi D, Amoroso A, Obino L, Sanges R, Vecchi M, Nobili L, Zara F, Gustincich S, Puliti A. Cerminara M, et al. Among authors: sanges r. Genet Med. 2026 Mar;28(3):101661. doi: 10.1016/j.gim.2025.101661. Epub 2025 Dec 8. Genet Med. 2026. PMID: 41378475 Free article.
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G, Trova S, Treves G, Farmanli K, Canonico MF, Fant A, Marangoni S, Furia F, Charrance D, Locci N, Gottardo S, Groppo F, Perseghin V, Toscano M, Bibbò E, Dontin SD, Cargnelutti C, Colliard M, Rosina A, Beoni AM, Bérard C, Coppe A, Serravalle P, Landuzzi F, Musacchia F, Amoroso A, Sanges R, Cavalli A, Vecchi M, Obino L, Gustincich S. Spirito G, et al. Among authors: sanges r. NPJ Genom Med. 2026 Feb 2;11(1):11. doi: 10.1038/s41525-025-00547-8. NPJ Genom Med. 2026. PMID: 41629344 Free PMC article.
Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.
Fant A, Trova S, Monfrini E, Treves G, Musacchia F, Landuzzi F, Mandich P, Amoroso A, Sanges R, Pandolfini L, Cavallieri F, Valzania F, Fioravanti V, Di Rauso G, Brescia G, Valente EM, Tiranti V, Romito LM, Reale C, Garavaglia B, Elia AE, Cavalli A, Di Fonzo A, Vecchi M, Gustincich S. Fant A, et al. Among authors: sanges r. Mov Disord. 2025 Dec;40(12):2722-2731. doi: 10.1002/mds.70027. Epub 2025 Aug 30. Mov Disord. 2025. PMID: 40884420 Free PMC article.
Internal ribosome entry sites enhance translation in trans in antisense non-coding SINEUP and circular RNAs.
D'Agostino S, Tettey-Matey A, Volpe M, Pierattini B, D'Agostino M, Smělá D, Ansaloni F, Broglia L, Lau P, Peruzzo O, Braccia C, Armirotti A, Scarpato M, Damiani D, Ros G, Di Carlo V, Maniscalco F, Bechara E, Tartaglia GG, Carninci P, Santoro C, Persichetti F, Pandolfini L, Simonetti A, Espinoza S, Zucchelli S, Sanges R, Bon C, Gustincich S. D'Agostino S, et al. Among authors: sanges r. Nucleic Acids Res. 2025 Aug 11;53(15):gkaf788. doi: 10.1093/nar/gkaf788. Nucleic Acids Res. 2025. PMID: 40823812 Free PMC article.
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Baptista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY, Vetrini F. Booth KTA, et al. Among authors: sanges r. Brain. 2025 Aug 1;148(8):2658-2670. doi: 10.1093/brain/awaf035. Brain. 2025. PMID: 39918047 Free PMC article.
Nkx2.7 is a conserved regulator of craniofacial development.
Ford C, de Sena-Tomás C, Wun TTR, Aleman AG, Rangaswamy U, Leyhr J, Nuñez MI, Gao CZ, Nim HT, See M, Coppola U, Waxman JS, Ramialison M, Haitina T, Smeeton J, Sanges R, Targoff KL. Ford C, et al. Among authors: sanges r. Nat Commun. 2025 Apr 23;16(1):3802. doi: 10.1038/s41467-025-58821-3. Nat Commun. 2025. PMID: 40268889 Free PMC article.
Genomic diversity in time and space in the toxic diatom Pseudo-nitzschia multistriata.
Mager S, Manfellotto F, Ruggiero A, Di Tuccio V, Cerino F, Accoroni S, Nishimura T, Mikhno M, Fattorini N, Turk Dermastia T, Arapov J, Skejic S, Rhodes L, Smith K, Longo A, Manzari C, Campbell L, Pesole G, Sanges R, Raffini F, Ruggiero MV, Russo MT, Montresor M, Ferrante MI. Mager S, et al. Among authors: sanges r. Harmful Algae. 2025 Feb;142:102791. doi: 10.1016/j.hal.2024.102791. Epub 2024 Dec 22. Harmful Algae. 2025. PMID: 39947866 Free article.
LINE-1 regulates cortical development by acting as long non-coding RNAs.
Mangoni D, Simi A, Lau P, Armaos A, Ansaloni F, Codino A, Damiani D, Floreani L, Di Carlo V, Vozzi D, Persichetti F, Santoro C, Pandolfini L, Tartaglia GG, Sanges R, Gustincich S. Mangoni D, et al. Among authors: sanges r. Nat Commun. 2023 Aug 17;14(1):4974. doi: 10.1038/s41467-023-40743-7. Nat Commun. 2023. PMID: 37591988 Free PMC article.
SINEUP non-coding RNA activity depends on specific N6-methyladenosine nucleotides.
Pierattini B, D'Agostino S, Bon C, Peruzzo O, Alendar A, Codino A, Ros G, Persichetti F, Sanges R, Carninci P, Santoro C, Espinoza S, Valentini P, Pandolfini L, Gustincich S. Pierattini B, et al. Among authors: sanges r. Mol Ther Nucleic Acids. 2023 Apr 7;32:402-414. doi: 10.1016/j.omtn.2023.04.002. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37187707 Free PMC article.
Piwil2 (Mili) sustains neurogenesis and prevents cellular senescence in the postnatal hippocampus.
Gasperini C, Tuntevski K, Beatini S, Pelizzoli R, Lo Van A, Mangoni D, Cossu RM, Pascarella G, Bianchini P, Bielefeld P, Scarpato M, Pons-Espinal M, Sanges R, Diaspro A, Fitzsimons CP, Carninci P, Gustincich S, De Pietri Tonelli D. Gasperini C, et al. Among authors: sanges r. EMBO Rep. 2023 Feb 6;24(2):e53801. doi: 10.15252/embr.202153801. Epub 2022 Dec 6. EMBO Rep. 2023. PMID: 36472244 Free PMC article.
Effects of spike protein and toxin-like peptides found in COVID-19 patients on human 3D neuronal/glial model undergoing differentiation: Possible implications for SARS-CoV-2 impact on brain development.
Pistollato F, Petrillo M, Clerbaux LA, Leoni G, Ponti J, Bogni A, Brogna C, Cristoni S, Sanges R, Mendoza-de Gyves E, Fabbri M, Querci M, Soares H, Munoz A, Whelan M, Van de Eede G. Pistollato F, et al. Among authors: sanges r. Reprod Toxicol. 2022 Aug;111:34-48. doi: 10.1016/j.reprotox.2022.04.011. Epub 2022 May 5. Reprod Toxicol. 2022. PMID: 35525527 Free PMC article.
Supporting Cells of the Human Olfactory Epithelium Co-Express the Lipid Scramblase TMEM16F and ACE2 and May Cause Smell Loss by SARS-CoV-2 Spike-Induced Syncytia.
Hernandez-Clavijo A, Gonzalez-Velandia KY, Rangaswamy U, Guarneri G, Boscolo-Rizzo P, Tofanelli M, Gardenal N, Sanges R, Dibattista M, Tirelli G, Menini A. Hernandez-Clavijo A, et al. Among authors: sanges r. Cell Physiol Biochem. 2022 Jun 7;56(3):254-269. doi: 10.33594/000000531. Cell Physiol Biochem. 2022. PMID: 35670331 Free article.
Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain.
Petrosino G, Ponte G, Volpe M, Zarrella I, Ansaloni F, Langella C, Di Cristina G, Finaurini S, Russo MT, Basu S, Musacchia F, Ristoratore F, Pavlinic D, Benes V, Ferrante MI, Albertin C, Simakov O, Gustincich S, Fiorito G, Sanges R. Petrosino G, et al. Among authors: sanges r. BMC Biol. 2022 May 18;20(1):116. doi: 10.1186/s12915-022-01303-5. BMC Biol. 2022. PMID: 35581640 Free PMC article.
Analysis of LINE1 Retrotransposons in Huntington's Disease.
Floreani L, Ansaloni F, Mangoni D, Agostoni E, Sanges R, Persichetti F, Gustincich S. Floreani L, et al. Among authors: sanges r. Front Cell Neurosci. 2022 Jan 14;15:743797. doi: 10.3389/fncel.2021.743797. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095420 Free PMC article.
SINEUPs: a novel toolbox for RNA therapeutics.
Espinoza S, Bon C, Valentini P, Pierattini B, Matey AT, Damiani D, Pulcrano S, Sanges R, Persichetti F, Takahashi H, Carninci P, Santoro C, Cotella D, Gustincich S. Espinoza S, et al. Among authors: sanges r. Essays Biochem. 2021 Oct 27;65(4):775-789. doi: 10.1042/EBC20200114. Essays Biochem. 2021. PMID: 34623427 Free PMC article. Review.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: sanges r. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stress.
Napoletano F, Ferrari Bravo G, Voto IAP, Santin A, Celora L, Campaner E, Dezi C, Bertossi A, Valentino E, Santorsola M, Rustighi A, Fajner V, Maspero E, Ansaloni F, Cancila V, Valenti CF, Santo M, Artimagnella OB, Finaurini S, Gioia U, Polo S, Sanges R, Tripodo C, Mallamaci A, Gustincich S, d'Adda di Fagagna F, Mantovani F, Specchia V, Del Sal G. Napoletano F, et al. Among authors: sanges r. Cell Rep. 2021 Sep 14;36(11):109694. doi: 10.1016/j.celrep.2021.109694. Cell Rep. 2021. PMID: 34525372 Free article.
Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
Pignata P, Apicella I, Cicatiello V, Puglisi C, Magliacane Trotta S, Sanges R, Tarallo V, De Falco S. Pignata P, et al. Among authors: sanges r. Int J Mol Sci. 2021 Apr 9;22(8):3896. doi: 10.3390/ijms22083896. Int J Mol Sci. 2021. PMID: 33918807 Free PMC article.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M, Spirito G, Pisciotta L, Squillario M, Servetti M, Divizia MT, Lerone M, Berloco B, Boeri S, Nobili L, Vozzi D, Sanges R, Gustincich S, Puliti A. Cerminara M, et al. Among authors: sanges r. Front Genet. 2021 Feb 18;12:625564. doi: 10.3389/fgene.2021.625564. eCollection 2021. Front Genet. 2021. PMID: 33679889 Free PMC article.
A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner.
Bertuzzi M, Tang D, Calligaris R, Vlachouli C, Finaurini S, Sanges R, Goldwurm S, Catalan M, Antonutti L, Manganotti P, Pizzolato G, Pezzoli G, Persichetti F, Carninci P, Gustincich S. Bertuzzi M, et al. Among authors: sanges r. Hum Mutat. 2020 Apr;41(4):807-824. doi: 10.1002/humu.23974. Epub 2020 Jan 31. Hum Mutat. 2020. PMID: 31898848
A draft genome sequence of the elusive giant squid, Architeuthis dux.
da Fonseca RR, Couto A, Machado AM, Brejova B, Albertin CB, Silva F, Gardner P, Baril T, Hayward A, Campos A, Ribeiro ÂM, Barrio-Hernandez I, Hoving HJ, Tafur-Jimenez R, Chu C, Frazão B, Petersen B, Peñaloza F, Musacchia F, Alexander GC, Osório H, Winkelmann I, Simakov O, Rasmussen S, Rahman MZ, Pisani D, Vinther J, Jarvis E, Zhang G, Strugnell JM, Castro LFC, Fedrigo O, Patricio M, Li Q, Rocha S, Antunes A, Wu Y, Ma B, Sanges R, Vinar T, Blagoev B, Sicheritz-Ponten T, Nielsen R, Gilbert MTP. da Fonseca RR, et al. Among authors: sanges r. Gigascience. 2020 Jan 1;9(1):giz152. doi: 10.1093/gigascience/giz152. Gigascience. 2020. PMID: 31942620 Free PMC article.
The RNA-binding protein ILF3 binds to transposable element sequences in SINEUP lncRNAs.
Fasolo F, Patrucco L, Volpe M, Bon C, Peano C, Mignone F, Carninci P, Persichetti F, Santoro C, Zucchelli S, Sblattero D, Sanges R, Cotella D, Gustincich S. Fasolo F, et al. Among authors: sanges r. FASEB J. 2019 Dec;33(12):13572-13589. doi: 10.1096/fj.201901618RR. Epub 2019 Oct 25. FASEB J. 2019. PMID: 31570000 Free PMC article.
Meta-Omics Reveals Genetic Flexibility of Diatom Nitrogen Transporters in Response to Environmental Changes.
Busseni G, Rocha Jimenez Vieira F, Amato A, Pelletier E, Pierella Karlusich JJ, Ferrante MI, Wincker P, Rogato A, Bowler C, Sanges R, Maiorano L, Chiurazzi M, Ribera d'Alcalà M, Caputi L, Iudicone D. Busseni G, et al. Among authors: sanges r. Mol Biol Evol. 2019 Nov 1;36(11):2522-2535. doi: 10.1093/molbev/msz157. Mol Biol Evol. 2019. PMID: 31259367 Free PMC article.
The survey and reference assisted assembly of the Octopus vulgaris genome.
Zarrella I, Herten K, Maes GE, Tai S, Yang M, Seuntjens E, Ritschard EA, Zach M, Styfhals R, Sanges R, Simakov O, Ponte G, Fiorito G. Zarrella I, et al. Among authors: sanges r. Sci Data. 2019 Apr 1;6(1):13. doi: 10.1038/s41597-019-0017-6. Sci Data. 2019. PMID: 30931949 Free PMC article.
MRP3 is a sex determining gene in the diatom Pseudo-nitzschia multistriata.
Russo MT, Vitale L, Entrambasaguas L, Anestis K, Fattorini N, Romano F, Minucci C, De Luca P, Biffali E, Vyverman W, Sanges R, Montresor M, Ferrante MI. Russo MT, et al. Among authors: sanges r. Nat Commun. 2018 Nov 28;9(1):5050. doi: 10.1038/s41467-018-07496-0. Nat Commun. 2018. PMID: 30487611 Free PMC article.
Distribution, Community Composition, and Potential Metabolic Activity of Bacterioplankton in an Urbanized Mediterranean Sea Coastal Zone.
Richa K, Balestra C, Piredda R, Benes V, Borra M, Passarelli A, Margiotta F, Saggiomo M, Biffali E, Sanges R, Scanlan DJ, Casotti R. Richa K, et al. Among authors: sanges r. Appl Environ Microbiol. 2017 Aug 17;83(17):e00494-17. doi: 10.1128/AEM.00494-17. Print 2017 Sep 1. Appl Environ Microbiol. 2017. PMID: 28667110 Free PMC article.
Evolutionary genomics of the cold-adapted diatom Fragilariopsis cylindrus.
Mock T, Otillar RP, Strauss J, McMullan M, Paajanen P, Schmutz J, Salamov A, Sanges R, Toseland A, Ward BJ, Allen AE, Dupont CL, Frickenhaus S, Maumus F, Veluchamy A, Wu T, Barry KW, Falciatore A, Ferrante MI, Fortunato AE, Glöckner G, Gruber A, Hipkin R, Janech MG, Kroth PG, Leese F, Lindquist EA, Lyon BR, Martin J, Mayer C, Parker M, Quesneville H, Raymond JA, Uhlig C, Valas RE, Valentin KU, Worden AZ, Armbrust EV, Clark MD, Bowler C, Green BR, Moulton V, van Oosterhout C, Grigoriev IV. Mock T, et al. Among authors: sanges r. Nature. 2017 Jan 26;541(7638):536-540. doi: 10.1038/nature20803. Epub 2017 Jan 16. Nature. 2017. PMID: 28092920 Free article.
Synechococcus: 3 billion years of global dominance.
Dvořák P, Casamatta DA, Poulíčková A, Hašler P, Ondřej V, Sanges R. Dvořák P, et al. Among authors: sanges r. Mol Ecol. 2014 Nov;23(22):5538-51. doi: 10.1111/mec.12948. Epub 2014 Oct 21. Mol Ecol. 2014. PMID: 25283338
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.
Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R, Davidson NP, Emmett W, Sanges R, Bockett N, Van Heel D, Meroni G, Bovolenta P, Stupka E, Banfi S. Conte I, et al. Among authors: sanges r. Nucleic Acids Res. 2014 Jul;42(12):7793-806. doi: 10.1093/nar/gku498. Epub 2014 Jun 3. Nucleic Acids Res. 2014. PMID: 24895435 Free PMC article.
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development.
Sanges R, Hadzhiev Y, Gueroult-Bellone M, Roure A, Ferg M, Meola N, Amore G, Basu S, Brown ER, De Simone M, Petrera F, Licastro D, Strähle U, Banfi S, Lemaire P, Birney E, Müller F, Stupka E. Sanges R, et al. Nucleic Acids Res. 2013 Apr 1;41(6):3600-18. doi: 10.1093/nar/gkt030. Epub 2013 Feb 7. Nucleic Acids Res. 2013. PMID: 23393190 Free PMC article.
Transcription initiation arising from E-cadherin/CDH1 intron2: a novel protein isoform that increases gastric cancer cell invasion and angiogenesis.
Pinheiro H, Carvalho J, Oliveira P, Ferreira D, Pinto MT, Osório H, Licastro D, Bordeira-Carriço R, Jordan P, Lazarevic D, Sanges R, Stupka E, Huntsman D, Seruca R, Oliveira C. Pinheiro H, et al. Among authors: sanges r. Hum Mol Genet. 2012 Oct 1;21(19):4253-69. doi: 10.1093/hmg/dds248. Epub 2012 Jun 29. Hum Mol Genet. 2012. PMID: 22752307
Genome-wide mapping of Myc binding and gene regulation in serum-stimulated fibroblasts.
Perna D, Fagà G, Verrecchia A, Gorski MM, Barozzi I, Narang V, Khng J, Lim KC, Sung WK, Sanges R, Stupka E, Oskarsson T, Trumpp A, Wei CL, Müller H, Amati B. Perna D, et al. Among authors: sanges r. Oncogene. 2012 Mar 29;31(13):1695-709. doi: 10.1038/onc.2011.359. Epub 2011 Aug 22. Oncogene. 2012. PMID: 21860422 Free PMC article.
Germline CDH1 deletions in hereditary diffuse gastric cancer families.
Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, Corso G, Schouten J, Fitzgerald R, Vogelsang H, Keller G, Dwerryhouse S, Grimmer D, Chin SF, Yang HK, Jackson CE, Seruca R, Roviello F, Stupka E, Caldas C, Huntsman D. Oliveira C, et al. Among authors: sanges r. Hum Mol Genet. 2009 May 1;18(9):1545-55. doi: 10.1093/hmg/ddp046. Epub 2009 Jan 24. Hum Mol Genet. 2009. PMID: 19168852 Free PMC article.