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

Year Number of Results
1996 1
2002 12
2003 4
2004 12
2005 15
2006 13
2007 14
2008 19
2009 27
2010 19
2011 36
2012 42
2013 32
2014 63
2015 53
2016 65
2017 45
2018 67
2019 34
2020 65
2021 41
2022 47
2023 37
2024 16

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727 results

Results by year

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Page 1
Defining and Reducing Variant Classification Disparities.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: gibbs ra. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.
Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Liu W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network; Spellman PT, Rathmell WK, Linehan WM. Ricketts CJ, et al. Among authors: gibbs ra. Cell Rep. 2024 Apr 23;43(4):113063. doi: 10.1016/j.celrep.2023.113063. Epub 2024 Apr 4. Cell Rep. 2024. PMID: 38578829 Free article. No abstract available.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. Dardas Z, et al. Among authors: gibbs ra. Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. Genome Med. 2024. PMID: 38570875 Free PMC article.
Closing the gap: Solving complex medically relevant genes at scale.
Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Mahmoud M, et al. Among authors: gibbs ra. medRxiv [Preprint]. 2024 Mar 18:2024.03.14.24304179. doi: 10.1101/2024.03.14.24304179. medRxiv. 2024. PMID: 38562723 Free PMC article. Preprint.
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Martin-Giacalone BA, et al. Among authors: gibbs ra. JAMA Netw Open. 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. JAMA Netw Open. 2024. PMID: 38546643 Free PMC article.
Empowering personalized pharmacogenomics with generative AI solutions.
Murugan M, Yuan B, Venner E, Ballantyne CM, Robinson KM, Coons JC, Wang L, Empey PE, Gibbs RA. Murugan M, et al. Among authors: gibbs ra. J Am Med Inform Assoc. 2024 Mar 6:ocae039. doi: 10.1093/jamia/ocae039. Online ahead of print. J Am Med Inform Assoc. 2024. PMID: 38447590
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. Among authors: gibbs ra. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Kerby C Oberg, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: gibbs ra. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. PMID: 38405817 Free PMC article. Preprint.
727 results