Article
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Human molecular genetics - 1 Nov 2014
Ratnapriya Rinki, Zhan Xiaowei, Fariss Robert N, Branham Kari E, Zipprer David, Chakarova Christina F, Sergeev Yuri V, Campos Maria M, Othman Mohammad, Friedman James S, Maminishkis Arvydas, Waseem Naushin H, Brooks Matthew, Rajasimha Harsha K, Edwards Albert O, Lotery Andrew, Klein Barbara E, Truitt Barbara J, Li Bingshan, Schaumberg Debra A, Morgan Denise J, Morrison Margaux A, Souied Eric, Tsironi Evangelia E, Grassmann Felix, Fishman Gerald A, Silvestri Giuliana, Scholl Hendrik P N, Kim Ivana K, Ramke Jacqueline, Tuo Jingsheng, Merriam Joanna E, Merriam John C, Park Kyu Hyung, Olson Lana M, Farrer Lindsay A, Johnson Matthew P, Peachey Neal S, Lathrop Mark, Baron Robert V, Igo Robert P, Klein Ronald, Hagstrom Stephanie A, Kamatani Yoichiro, Martin Tammy M, Jiang Yingda, Conley Yvette, Sahel Jose-Alan, Zack Donald J, Chan Chi-Chao, Pericak-Vance Margaret A, Jacobson Samuel G, Gorin Michael B, Klein Michael L, Allikmets Rando, Iyengar Sudha K, Weber Bernhard H, Haines Jonathan L, Léveillard Thierry, Deangelis Margaret M, Stambolian Dwight, Weeks Daniel E, Bhattacharya Shomi S, Chew Emily Y, Heckenlively John R, Abecasis Gonçalo R, Swaroop Anand
Abstract excerpt
Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a...
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