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Year Number of Results
2003 1
2004 1
2007 1
2009 4
2010 5
2011 4
2012 11
2013 3
2014 2
2015 2
2016 4
2017 1
2018 1
2019 6
2020 16
2021 18
2022 25
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2026 11

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143 results

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Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: onesimo r. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: onesimo r. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran-Mau-Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: onesimo r. Brain. 2025 Apr 3;148(4):1155-1168. doi: 10.1093/brain/awae320. Brain. 2025. PMID: 39405200 Free PMC article.
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni MC, Cappelletti C, Caraffi SG, Celario M, Ciolfi A, Cordeddu V, De Falco A, Ferilli M, Garavelli L, Leoni C, Meossi C, Niceta M, Onesimo R, Peluso F, Politano D, Priolo M, Radio FC, Santorelli F, Signorini S, Sirchia F, Valente EM, Zampino G, Tartaglia M. Bruselles A, et al. Among authors: onesimo r. Eur J Hum Genet. 2025 Apr;33(4):432-440. doi: 10.1038/s41431-025-01820-1. Epub 2025 Feb 26. Eur J Hum Genet. 2025. PMID: 40011755 Free PMC article.
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.
Allegri AEM, Bedeschi MF, Bocchi MB, Camurri V, Gonfiantini MV, Leoni C, Mariani M, Palmacci O, Porro M, Riganti S, Tedesco C, Rinaldi B, Scarano E, Schiavariello C, Selicorni A, Stagi S, Verdoni F, Zampino G, Maghnie M, Onesimo R. Allegri AEM, et al. Among authors: onesimo r. Orphanet J Rare Dis. 2025 Jul 17;20(1):369. doi: 10.1186/s13023-025-03853-7. Orphanet J Rare Dis. 2025. PMID: 40676599 Free PMC article.
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Cuinat S, Cormier-Daire V, Rosain J, Huber C, Ferriere E, Fournier B, Cheminant M, Castelle M, Bastard P, Noel N, Bourdic K, Picard C, Moshous D, Courteille V, Mahlaoui N, Bustamante J, Collobert G, Mignot C, Keren B, Drunat S, Rondeau S, Rabec A, Besson A, Chatron N, Lesca G, Laurent A, Mortreux J, Dancer MS, Dejeans G, Poggi C, Stoeva R, Lecordier A, Poirsier C, Dieux A, Sarrot-Reynauld F, Laudier B, Le Besnerais M, Guerrot AM, Nizon M, Cogne B, Isidor B, Julia S, Bouri S, Fusaro M, Willems M, Elenga N, Dobian SR, Diop M, Pacaud S, Dichamp C, Sarrazin E, Lasa-Aranzasti A, Tizzano EF, Marti IC, Nalda AM, Felipe-Rucián A, Gómez-Andres D, Codina-Solà M, Fernandez P, Riviere JG, Soler-Palacín P, Fernández-Jaén A, Carrión-Mera T, Borgmann I, Johnsen C, Schlotawa L, Kettwig M, Hoffmann J, Lex C, Speckmann C, von Hardenberg S, Wetzke M, Paul VG, Vockel M, Horvath J, Busche A, Hirschberger N, Shoukier M, Filges I, De Geyter J, Barakat TS, Borg I, Kłosowska A, Głuszkiewicz L, Allen S, Cilliers D, Foley PA, Lynch SA, McDonnell C, Sansović I, Odak L, Vulin K, Jensen JM, Pedersen IS, Ernst A, Taşdelen E, Kılıç M, Kılıç E, Altunoğlu U, Tatlı B, Akman B, Yıldırım RN, Gürsoy S, Bozkaya ÖG, Nic… See abstract for full author list ➔ Cuinat S, et al. Among authors: onesimo r. Genet Med. 2026 Jun 19:102632. doi: 10.1016/j.gim.2026.102632. Online ahead of print. Genet Med. 2026. PMID: 42322192 Free article.
Multimodal ocular imaging in Proteus syndrome.
Salerni A, Scartozzi L, Piccinni F, Mosca L, Mattei R, Leoni C, Onesimo R, Zampino G, Rizzo S. Salerni A, et al. Among authors: onesimo r. Eur J Ophthalmol. 2023 Sep;33(5):NP5-NP10. doi: 10.1177/11206721221125852. Epub 2022 Sep 13. Eur J Ophthalmol. 2023. PMID: 36113118 Free PMC article.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R. Trevisan V, et al. Among authors: onesimo r. Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article.
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: onesimo r. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento A, Ortez C, Jou C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera de Benito D, Maroofian R, Tartaglia M. Radio FC, et al. Among authors: onesimo r. Genet Med. 2026 May;28(5):102558. doi: 10.1016/j.gim.2026.102558. Epub 2026 Mar 25. Genet Med. 2026. PMID: 41904678
143 results