1. 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) ↗
2. 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) ↗
3. Identification of missense MAB21L1 variants in microphthalmia and aniridia. Issue 7 (24th May 2021) Authors: Seese, Sarah E.; Reis, Linda M.; Deml, Brett; Griffith, Christopher; Reich, Adi; Jamieson, Robyn V.; Semina, Elena V. Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018) Authors: Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia... Journal: Journal of human genetics Issue: Volume 63:Issue 3(2018) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗