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

Year Number of Results
2005 3
2007 5
2008 2
2009 4
2010 5
2011 12
2012 6
2013 2
2014 1
2015 4
2016 5
2017 7
2018 5
2019 3
2020 4
2021 4
2022 6
2023 1
2024 2

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73 results

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Page 1
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey DA, Ong JS, MacGregor S, Whiteman DC, Craig JE, Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Howell N, Hewitt AW. Mackey DA, et al. Among authors: kearns ls. Am J Hum Genet. 2023 Jan 5;110(1):170-176. doi: 10.1016/j.ajhg.2022.11.014. Epub 2022 Dec 23. Am J Hum Genet. 2023. PMID: 36565701 Free PMC article.
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study—GWAS group; Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S. Iglesias AI, et al. Among authors: kearns ls. Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. Nat Commun. 2018. PMID: 29760442 Free PMC article.
Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma.
Daniszewski M, Senabouth A, Liang HH, Han X, Lidgerwood GE, Hernández D, Sivakumaran P, Clarke JE, Lim SY, Lees JG, Rooney L, Gulluyan L, Souzeau E, Graham SL, Chan CL, Nguyen U, Farbehi N, Gnanasambandapillai V, McCloy RA, Clarke L, Kearns LS, Mackey DA, Craig JE, MacGregor S, Powell JE, Pébay A, Hewitt AW. Daniszewski M, et al. Among authors: kearns ls. Cell Genom. 2022 Jun 8;2(6):100142. doi: 10.1016/j.xgen.2022.100142. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778138 Free PMC article.
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, Elder JE, Charlesworth JC, Mackey DA, Ruddle JB, Taranath D, Pater J, Casey T, Craig JE, Burdon KP. Jones JL, et al. Among authors: kearns ls. BMJ Open Ophthalmol. 2022 Aug;7(1):e001064. doi: 10.1136/bmjophth-2022-001064. BMJ Open Ophthalmol. 2022. PMID: 36161833 Free PMC article.
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E, Siggs OM, Mullany S, Schmidt JM, Hassall MM, Dubowsky A, Chappell A, Breen J, Bae H, Nicholl J, Hadler J, Kearns LS, Staffieri SE, Hewitt AW, Mackey DA, Gupta A, Burdon KP, Klebe S, Craig JE, Mills RA. Souzeau E, et al. Among authors: kearns ls. Mol Genet Genomic Med. 2022 Oct;10(10):e2023. doi: 10.1002/mgg3.2023. Epub 2022 Aug 19. Mol Genet Genomic Med. 2022. PMID: 35985662 Free PMC article.
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.
Senabouth A, Daniszewski M, Lidgerwood GE, Liang HH, Hernández D, Mirzaei M, Keenan SN, Zhang R, Han X, Neavin D, Rooney L, Lopez Sanchez MIG, Gulluyan L, Paulo JA, Clarke L, Kearns LS, Gnanasambandapillai V, Chan CL, Nguyen U, Steinmann AM, McCloy RA, Farbehi N, Gupta VK, Mackey DA, Bylsma G, Verma N, MacGregor S, Watt MJ, Guymer RH, Powell JE, Hewitt AW, Pébay A. Senabouth A, et al. Among authors: kearns ls. Nat Commun. 2022 Jul 26;13(1):4233. doi: 10.1038/s41467-022-31707-4. Nat Commun. 2022. PMID: 35882847 Free PMC article.
Establishing risk of vision loss in Leber hereditary optic neuropathy.
Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Hewitt AW, Howell N, Mackey DA. Lopez Sanchez MIG, et al. Among authors: kearns ls. Am J Hum Genet. 2021 Nov 4;108(11):2159-2170. doi: 10.1016/j.ajhg.2021.09.015. Epub 2021 Oct 19. Am J Hum Genet. 2021. PMID: 34670133 Free PMC article.
73 results