1. 8q21.11 microdeletion in two patients with syndromic peters anomaly. Issue 9 (5th July 2016) Authors: Happ, Hannah; Schilter, Kala F.; Weh, Eric; Reis, Linda M.; Semina, Elena V. Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. (March 2015) Authors: Reis, Linda M.; Tyler, Rebecca C.; Zori, Roberto; Burgess, Jennifer; Mueller, Jennifer; Semina, Elena V. Journal: Ophthalmic genetics Issue: Volume 36:Number 1(2015:Mar.) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Issue 5 (17th August 2020) Authors: Reis, Linda M.; Basel, Donald; McCarrier, Julie; Weinberg, David V.; Semina, Elena V. Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Issue 2 (3rd June 2015) Authors: Reis, Linda M.; Semina, Elena V. Journal: Birth defects research Issue: Volume 105:Issue 2(2015) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Issue 3 (16th December 2020) Authors: Reis, Linda M.; Costakos, Deborah; Wheeler, Patricia G.; Bardakjian, Tanya; Schneider, Adele; Fung, Simon S. M.; Semina, Elena V. Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Issue 7 (27th June 2015) Authors: Deml, Brett; Reis, Linda M.; Muheisen, Sanaa; Bick, David; Semina, Elena V. Journal: Birth defects research Issue: Volume 103:Issue 7(2015) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. Issue 8 (12th March 2021) Authors: Seese, Sarah E.; Deml, Brett; Muheisen, Sanaa; Sorokina, Elena; Semina, Elena V. Journal: Developmental dynamics Issue: Volume 250:Issue 8(2021) Page Start: 1056 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree. Issue 11 (1st August 2017) Authors: Hendee, Kathryn; Wang, Lauren Weiping; Reis, Linda M.; Rice, Gregory M.; Apte, Suneel S.; Semina, Elena V. Journal: Human mutation Issue: Volume 38:Issue 11(2017) Page Start: 1485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Issue 6 (2nd June 2015) Authors: Schilter, Kala F.; Reis, Linda M.; Sorokina, Elena A.; Semina, Elena V. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 6(2015:Nov.) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Issue 4 (6th January 2023) Authors: Seese, Sarah E.; Muheisen, Sanaa; Gath, Natalie; Gross, Jeffrey M.; Semina, Elena V. Journal: Developmental dynamics Issue: Volume 252:Issue 4(2023) Page Start: 510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗