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

Year Number of Results
2005 2
2006 1
2007 1
2008 4
2009 3
2010 2
2011 2
2012 6
2013 6
2014 10
2015 12
2016 10
2017 7
2018 13
2019 9
2020 5
2021 15
2022 7
2023 14
2024 16
2025 16
2026 3

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152 results

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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: ghezzi d. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: ghezzi d. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
Infantile mitochondrial encephalopathy.
Uziel G, Ghezzi D, Zeviani M. Uziel G, et al. Among authors: ghezzi d. Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26. Semin Fetal Neonatal Med. 2011. PMID: 21620787 Review.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Among authors: ghezzi d. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.
Di Michele M, Attina A, Roux PF, Tabet I, Laguesse S, Florido J, Houdeville M, Choquet A, Encislai B, Arena G, De Blasio C, Wendling O, Frenois FX, Papon L, Stuani L, Fuentes M, Jahannault Talignani C, Rousseau M, Guégan J, Buscail Y, Dupré P, Michaud HA, Rodier G, Bellvert F, Kulyk H, Ferraro Peyret C, Mathieu H, Close P, Rapino F, Chaveroux C, Pirot N, Rubio L, Torro A, Sorg T, Ango F, Hirtz C, Compan V, Lebigot E, Legati A, Ghezzi D, Nguyen L, David A, Sardet C, Lacroix M, Le Cam L. Di Michele M, et al. Among authors: ghezzi d. Nat Commun. 2025 Jan 2;16(1):67. doi: 10.1038/s41467-024-55444-y. Nat Commun. 2025. PMID: 39747033 Free PMC article.
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ. Sung AY, et al. Among authors: ghezzi d. Nat Metab. 2024 Jun;6(6):1128-1142. doi: 10.1038/s42255-024-01039-2. Epub 2024 May 8. Nat Metab. 2024. PMID: 38720117 Free PMC article.
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, Schlein C, Shagina O, Takashima H, Tsygankova P, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H. Peymani F, et al. Among authors: ghezzi d. Brain. 2026 Jan 8;149(1):163-177. doi: 10.1093/brain/awaf159. Brain. 2026. PMID: 40302207 Free PMC article.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: ghezzi d. Brain. 2024 Jun 3;147(6):1967-1974. doi: 10.1093/brain/awae057. Brain. 2024. PMID: 38478578 Free PMC article.
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pietro Pasti A, Palombo F, Barboni P, Lucia Cascavilla M, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L. Fiorini C, et al. Among authors: ghezzi d. Brain. 2025 Nov 14:awaf422. doi: 10.1093/brain/awaf422. Online ahead of print. Brain. 2025. PMID: 41234160
152 results