Analysis of human sarcospan as a candidate gene for CFEOM1

by O'Brien, Kristine F, Engle, Elizabeth C, Kunkel, Louis M
Published 2001

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)

by VanderVeen, Deborah K., Andrews, Caroline, Nihalani, Bharti R., Engle, Elizabeth C.
Published 2011

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

by Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Published 2013

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

by Chan, Wai-Man, Andrews, Caroline, Dragan, Laryssa, Fredrick, Douglas, Armstrong, Linlea, Lyons, Christopher, Geraghty, Michael T, Hunter, David G, Yazdani, Ahmad, Traboulsi, Elias I, Pott, Jan WR, Gutowski, Nicholas J, Ellard, Sian, Young, Elizabeth, Hanisch, Frank, Koc, Feray, Schnall, Bruce, Engle, Elizabeth C
Published 2007

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

by Engle, Elizabeth C, McIntosh, Nathalie, Yamada, Koki, Lee, Bjorn A, Johnson, Roger, O'Keefe, Michael, Letson, Robert, London, Arnold, Ballard, Evan, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Collins, Mary Louise Z, Morris, Lisa, Monte, Monte Del, Magli, Adriano, de Berardinis, Teresa
Published 2002