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Page 1
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Nat Commun. 2024 Jan 9;15(1):396. doi: 10.1038/s41467-023-44380-y.
Nat Commun. 2024.
PMID: 38195602
Free PMC article.
Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.
Wong YL, Hysi P, Cheung G, Tedja M, Hoang QV, Tompson SWJ, Whisenhunt KN, Verhoeven V, Zhao W, Hess M, Wong CW, Kifley A, Hosoda Y, Haarman AEG, Hopf S, Laspas P, Sensaki S, Sim X, Miyake M, Tsujikawa A, Lamoureux E, Ohno-Matsui K, Nickels S, Mitchell P, Wong TY, Wang JJ, Hammond CJ, Barathi VA, Cheng CY, Yamashiro K, Young TL, Klaver CCW, Saw SM; Consortium of Refractive Error, Myopia (CREAM).
Wong YL, et al. Among authors: tompson swj.
PLoS One. 2019 Aug 15;14(8):e0220143. doi: 10.1371/journal.pone.0220143. eCollection 2019.
PLoS One. 2019.
PMID: 31415580
Free PMC article.
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Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.
Ruiz-Perez VL, et al.
Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4.
Am J Hum Genet. 2003.
PMID: 12571802
Free PMC article.
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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.
Tompson SW, et al.
Hum Genet. 2007 Jan;120(5):663-70. doi: 10.1007/s00439-006-0237-7. Epub 2006 Sep 21.
Hum Genet. 2007.
PMID: 17024374
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Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.
Wong YL, Hysi P, Cheung G, Tedja M, Hoang QV, Tompson SWJ, Whisenhunt KN, Verhoeven VJM, Zhao W, Hess M, Wong CW, Kifley A, Hosoda Y, Haarman AEG, Hopf S, Laspas P, Sensaki S, Sim X, Miyake M, Tsujikawa A, Lamoureux E, Ohno-Matsui K, Nickels S, Mitchell P, Wong TY, Wang JJ, Hammond CJ, Barathi VA, Cheng CY, Yamashiro K, Young TL, Klaver CCW, Saw SM; Consortium of Refractive Error, Myopia (CREAM).
Wong YL, et al. Among authors: tompson swj.
PLoS One. 2019 Oct 10;14(10):e0223942. doi: 10.1371/journal.pone.0223942. eCollection 2019.
PLoS One. 2019.
PMID: 31600355
Free PMC article.
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