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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: gerlini r. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH. Lucienne M, et al. Among authors: gerlini r. Hum Mol Genet. 2023 Aug 26;32(17):2717-2734. doi: 10.1093/hmg/ddad100. Hum Mol Genet. 2023. PMID: 37369025 Free PMC article.
Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus P, Spielmann N, Klein-Rodewald T, Schütt C, Aguilar-Pimentel A, Amarie OV, Becker L, Calzada-Wack J, Garrett L, Gerlini R, Kraiger M, Leuchtenberger S, Östereicher MA, Rathkolb B, Sanz-Moreno A, Stöger C, Hölter SM, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Hrabě de Angelis M. da Silva-Buttkus P, et al. Among authors: gerlini r. Mamm Genome. 2023 Jun;34(2):244-261. doi: 10.1007/s00335-023-09986-z. Epub 2023 May 9. Mamm Genome. 2023. PMID: 37160609 Free PMC article.
METTL6 is a tRNA m3C methyltransferase that regulates pluripotency and tumor cell growth.
Ignatova VV, Kaiser S, Ho JSY, Bing X, Stolz P, Tan YX, Lee CL, Gay FPH, Lastres PR, Gerlini R, Rathkolb B, Aguilar-Pimentel A, Sanz-Moreno A, Klein-Rodewald T, Calzada-Wack J, Ibragimov E, Valenta M, Lukauskas S, Pavesi A, Marschall S, Leuchtenberger S, Fuchs H, Gailus-Durner V, de Angelis MH, Bultmann S, Rando OJ, Guccione E, Kellner SM, Schneider R. Ignatova VV, et al. Among authors: gerlini r. Sci Adv. 2020 Aug 26;6(35):eaaz4551. doi: 10.1126/sciadv.aaz4551. eCollection 2020 Aug. Sci Adv. 2020. PMID: 32923617 Free PMC article.
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.
Xie K, Fuchs H, Scifo E, Liu D, Aziz A, Aguilar-Pimentel JA, Amarie OV, Becker L, da Silva-Buttkus P, Calzada-Wack J, Cho YL, Deng Y, Edwards AC, Garrett L, Georgopoulou C, Gerlini R, Hölter SM, Klein-Rodewald T, Kramer M, Leuchtenberger S, Lountzi D, Mayer-Kuckuk P, Nover LL, Oestereicher MA, Overkott C, Pearson BL, Rathkolb B, Rozman J, Russ J, Schaaf K, Spielmann N, Sanz-Moreno A, Stoeger C, Treise I, Bano D, Busch DH, Graw J, Klingenspor M, Klopstock T, Mock BA, Salomoni P, Schmidt-Weber C, Weiergräber M, Wolf E, Wurst W, Gailus-Durner V, Breteler MMB, Hrabě de Angelis M, Ehninger D. Xie K, et al. Among authors: gerlini r. Nat Commun. 2022 Nov 11;13(1):6830. doi: 10.1038/s41467-022-34515-y. Nat Commun. 2022. PMID: 36369285 Free PMC article.
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.
Garrett L, Da Silva-Buttkus P, Rathkolb B, Gerlini R, Becker L, Sanz-Moreno A, Seisenberger C, Zimprich A, Aguilar-Pimentel A, Amarie OV, Cho YL, Kraiger M, Spielmann N, Calzada-Wack J, Marschall S, Busch D, Schmitt-Weber C, Wolf E, Wurst W, Fuchs H, Gailus-Durner V, Hölter SM, Hrabě de Angelis M. Garrett L, et al. Among authors: gerlini r. Dis Model Mech. 2022 Mar 1;15(3):dmm049205. doi: 10.1242/dmm.049205. Epub 2022 Mar 4. Dis Model Mech. 2022. PMID: 34964047 Free PMC article.
Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.
Png G, Gerlini R, Hatzikotoulas K, Barysenka A, Rayner NW, Klarić L, Rathkolb B, Aguilar-Pimentel JA, Rozman J, Fuchs H, Gailus-Durner V, Tsafantakis E, Karaleftheri M, Dedoussis G, Pietrzik C, Wilson JF, de Angelis MH, Becker-Pauly C, Gilly A, Zeggini E. Png G, et al. Among authors: gerlini r. Hum Mol Genet. 2023 Apr 6;32(8):1266-1275. doi: 10.1093/hmg/ddac275. Hum Mol Genet. 2023. PMID: 36349687 Free PMC article.
Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse.
Müller-Eigner A, Sanz-Moreno A, de-Diego I, Venkatasubramani AV, Langhammer M, Gerlini R, Rathkolb B, Aguilar-Pimentel A, Klein-Rodewald T, Calzada-Wack J, Becker L, Palma-Vera S, Gille B, Forne I, Imhof A, Meng C, Ludwig C, Koch F, Heiker JT, Kuhla A, Caton V, Brenmoehl J, Reyer H, Schoen J, Fuchs H, Gailus-Durner V, Hoeflich A, de Angelis MH, Peleg S. Müller-Eigner A, et al. Among authors: gerlini r. Commun Biol. 2022 May 3;5(1):408. doi: 10.1038/s42003-022-03339-3. Commun Biol. 2022. PMID: 35505192 Free PMC article.
Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.
Milenkovic D, Sanz-Moreno A, Calzada-Wack J, Rathkolb B, Veronica Amarie O, Gerlini R, Aguilar-Pimentel A, Misic J, Simard ML, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Larsson NG. Milenkovic D, et al. Among authors: gerlini r. PLoS Genet. 2022 May 9;18(5):e1010190. doi: 10.1371/journal.pgen.1010190. eCollection 2022 May. PLoS Genet. 2022. PMID: 35533204 Free PMC article.
23 results