Genetics in Ophthalmology

by Lev Prasov, Stephen T. Armenti, Virginia Miraldi Utz, Julia E. Richards, Robert B. Hufnagel
Published 2018-01-01

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

by Grace M. Wang, Lev Prasov, Hayder Al-Hasani, Colin E. R. Marrs, Sahil Tolia, Laurel Wiinikka-Buesser, Julia E. Richards, Brenda L. Bohnsack
Published 2018-01-01

Association of HK2 and NCK2 with normal tension glaucoma in the Japanese population.

by Dong Shi, Tomoyo Funayama, Yukihiko Mashima, Yoshimasa Takano, Ai Shimizu, Kotaro Yamamoto, MinGe Mengkegale, Akiko Miyazawa, Noriko Yasuda, Takeo Fukuchi, Haruki Abe, Hidenao Ideta, Kohji Nishida, Toru Nakazawa, Julia E Richards, Nobuo Fuse
Published 2013-01-01

GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.

by Yutao Liu, Jason Gibson, Joshua Wheeler, Lydia Coulter Kwee, Cecile M Santiago-Turla, Stephen K Akafo, Paul R Lichter, Douglas E Gaasterland, Sayoko E Moroi, Pratap Challa, Leon W Herndon, Christopher A Girkin, Donald L Budenz, Julia E Richards, R Rand Allingham, Michael A Hauser
Published 2011-01-01

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

by Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Published 2019-05-01

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.

by Janey L Wiggs, Brian L Yaspan, Michael A Hauser, Jae H Kang, R Rand Allingham, Lana M Olson, Wael Abdrabou, Bao J Fan, Dan Y Wang, Wendy Brodeur, Donald L Budenz, Joseph Caprioli, Andrew Crenshaw, Kristy Crooks, Elizabeth Delbono, Kimberly F Doheny, David S Friedman, Douglas Gaasterland, Terry Gaasterland, Cathy Laurie, Richard K Lee, Paul R Lichter, Stephanie Loomis, Yutao Liu, Felipe A Medeiros, Cathy McCarty, Daniel Mirel, Sayoko E Moroi, David C Musch, Anthony Realini, Frank W Rozsa, Joel S Schuman, Kathleen Scott, Kuldev Singh, Joshua D Stein, Edward H Trager, Paul Vanveldhuisen, Douglas Vollrath, Gadi Wollstein, Sachiko Yoneyama, Kang Zhang, Robert N Weinreb, Jason Ernst, Manolis Kellis, Tomohiro Masuda, Don Zack, Julia E Richards, Margaret Pericak-Vance, Louis R Pasquale, Jonathan L Haines
Published 2012-01-01