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Page 1
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: sergouniotis pi. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Reply.
Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Among authors: sergouniotis p. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
A foundation model for generalizable disease detection from retinal images.
Zhou Y, Chia MA, Wagner SK, Ayhan MS, Williamson DJ, Struyven RR, Liu T, Xu M, Lozano MG, Woodward-Court P, Kihara Y; UK Biobank Eye & Vision Consortium; Altmann A, Lee AY, Topol EJ, Denniston AK, Alexander DC, Keane PA. Zhou Y, et al. Nature. 2023 Oct;622(7981):156-163. doi: 10.1038/s41586-023-06555-x. Epub 2023 Sep 13. Nature. 2023. PMID: 37704728 Free PMC article.
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: sergouniotis pi. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.
Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease.
Wagner SK, Romero-Bascones D, Cortina-Borja M, Williamson DJ, Struyven RR, Zhou Y, Patel S, Weil RS, Antoniades CA, Topol EJ, Korot E, Foster PJ, Balaskas K, Ayala U, Barrenechea M, Gabilondo I, Schapira AHV, Khawaja AP, Patel PJ, Rahi JS, Denniston AK, Petzold A, Keane PA; for UK Biobank Eye & Vision Consortium. Wagner SK, et al. Neurology. 2023 Oct 17;101(16):e1581-e1593. doi: 10.1212/WNL.0000000000207727. Epub 2023 Aug 21. Neurology. 2023. PMID: 37604659 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: sergouniotis pi. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Genome-wide association testing beyond SNPs.
Harris L, McDonagh EM, Zhang X, Fawcett K, Foreman A, Daneck P, Sergouniotis PI, Parkinson H, Mazzarotto F, Inouye M, Hollox EJ, Birney E, Fitzgerald T. Harris L, et al. Among authors: sergouniotis pi. Nat Rev Genet. 2024 Oct 7. doi: 10.1038/s41576-024-00778-y. Online ahead of print. Nat Rev Genet. 2024. PMID: 39375560 Review.
114 results