• ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma 

      Praveen, Kavita; Patel, Gaurang C.; Gurski, Lauren; Ayer, Ariane H.; Persaud, Trikaladarshi; Still, Matthew D.; Miloscio, Lawrence; Van Zyl, Tavé; Di Gioia, Silvio Alessandro; Brumpton, Ben Michael; Krebs, Kristine; Åsvold, Bjørn Olav; Chen, Esteban; Chavali, Venkata R M; Fury, Wen; Gudiseva, Harini V.; Hyde, Sarah; Jorgenson, Eric; Lefebvre, Stephanie; Li, Dadong; Li, Alexander; Mclninch, James; Patel, Brijeshkumar; Rabinowitz, Jeremy S.; Salowe, Rebecca; Schurmann, Claudia; Seidelin, Anne-Sofie; Stahl, Eli; Sun, Dylan; Teslovich, Tanya M.; Tybjærg-Hansen, Anne; Willer, Cristen; Waldron, Scott; Walley, Sabrina; Yang, Hua; Zaveri, Sarthak; Hu, Ying; Hveem, Kristian; Melander, Olle; Milani, Lili; Stender, Stefan; O'Brien, Joan M.; Jones, Marcus B.; Abecasis, Gonçalo R; Cantor, Michael N.; Weyne, Jonathan; Karalis, Katia; Economides, Aris; Della Gatta, Giusy; Ferreira, Manuel A.; Yancopoulos, George D.; Baras, Aris; Romano, Carmelo; Coppola, Giovanni (Peer reviewed; Journal article, 2022)
      Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading ...
    • MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk 

      Surakka, Ida; Fritsche, Lars; Zhou, Wei; Backman, Joshua; Kosmicki, Jack A.; Lu, Haocheng; Brumpton, Ben Michael; Nielsen, Jonas B.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Wolford, Brooke N.; Graham, Sarah E.; Chen, Y. Eugene; Lee, Seunggeun; Kang, Hyun Min; Langhammer, Arnulf; Forsmo, Siri; Åsvold, Bjørn Olav; Styrkarsdottir, Unnur; Holm, Hilma; Gudbjartsson, Daniel F.; Stefansson, Kari; Baras, Aris; Bai, Xiaodong; Balasubramanian, Suganthi; Barnard, Leland; Blumenfeld, Andrew; Cantor, Michael; Coppola, Giovanni; Economides, Aris; Eom, Gisu; Habegger, Lukas; Hahn, Young; Hawes, Alicia; Jones, Marcus B.; Khalid, Shareef; Lotta, Luca A.; Maxwell, Evan K.; Mitnaul, Lyndon J.; Overton, John D.; Reid, Jeffrey G.; Ferreira, Manuel Allen Revez; Salerno, William; Sharma, Deepika; Shuldiner, Alan R.; Staples, Jeffrey C.; Yadav, Ashish; Abecasis, Goncalo R.; Hveem, Kristian; Willer, Cristen J. (Peer reviewed; Journal article, 2020)
      A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the ...