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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Blindness and EFEMP1[original query]
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. GWAS Catalog
Genetic epidemiology 2015 Mar 39 (3): 207-16.
Springelkamp Henriët, Mishra Aniket, Hysi Pirro G, Gharahkhani Puya, Höhn René, Khor Chiea-Chuen, Cooke Bailey Jessica N, Luo Xiaoyan, Ramdas Wishal D, Vithana Eranga, Koh Victor, Yazar Seyhan, Xu Liang, Forward Hannah, Kearns Lisa S, Amin Najaf, Iglesias Adriana I, Sim Kar-Seng, van Leeuwen Elisabeth M, Demirkan Ayse, van der Lee Sven, Loon Seng-Chee, Rivadeneira Fernando, Nag Abhishek, Sanfilippo Paul G, Schillert Arne, de Jong Paulus T V M, Oostra Ben A, Uitterlinden André G, Hofman Albert, , Zhou Tiger, Burdon Kathryn P, Spector Timothy D, Lackner Karl J, Saw Seang-Mei, Vingerling Johannes R, Teo Yik-Ying, Pasquale Louis R, Wolfs Roger C W, Lemij Hans G, Tai E-Shyong, Jonas Jost B, Cheng Ching-Yu, Aung Tin, Jansonius Nomdo M, Klaver Caroline C W, Craig Jamie E, Young Terri L, Haines Jonathan L, MacGregor Stuart, Mackey David A, Pfeiffer Norbert, Wong Tien-Yin, Wiggs Janey L, Hewitt Alex W, van Duijn Cornelia M, Hammond Christopher
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
PloS one 2016 11 (3): e0152047.
Duvvari Maheswara R, van de Ven Johannes P H, Geerlings Maartje J, Saksens Nicole T M, Bakker Bjorn, Henkes Arjen, Neveling Kornelia, Rosario Marisol Del, Westra Dineke, van den Heuvel Lambertus P W J, Schick Tina, Fauser Sascha, Boon Camiel J F, Hoyng Carel B, Jong Eiko K de, Hollander Anneke I d
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.
Human mutation 2021 12 43 (2): 240-252.
Collantes Edward Ryan A, Delfin Manuel S, Fan Baojian, Torregosa Justine May R, Siguan-Bell Christine, Florcruz Nilo Vincent de Guzman, Martinez Jose Maria D, Masna-Hidalgo Barbara Joy, Guzman Vincent Paul T, Anotado-Flores Jewel Faith, Levina Faye D, Hernandez Sophia Raine C, Collantes Anthony A, Sibulo Michael Carreon, Rong Shisong, Wiggs Janey
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