1. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. (2nd November 2017) Authors: Hardin, Joshua S.; Schaefer, G. Bradley; Sallam, Ahmed B.; Williams, M. Kathryn; Uwaydat, Sami Journal: Ophthalmic genetics Issue: Volume 38:Number 6(2017) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature. Issue 8 (20th May 2014) Authors: Zarate, Yuri A.; Lepard, Tiffany; Sellars, Elizabeth; Kaylor, Julie A.; Alfaro, Maria P.; Sailey, Charles; Schaefer, G. Bradley; Collins, R. Thomas Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1998 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. In memory of Murray Feingold (1930–2015). Issue 7 (5th May 2016) Authors: Schaefer, G. Bradley; Nowak, Catherine Bearce; Olney, Ann Haskins Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. (30th September 2015) Authors: Starr, Lois J.; Grange, Dorothy K.; Delaney, Jeffrey W.; Yetman, Anji T.; Hammel, James M.; Sanmann, Jennifer N.; Perry, Deborah A.; Schaefer, G. Bradley; Olney, Ann Haskins Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 2893 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Issue 4 (3rd April 2016) Authors: Lam, Wayne W.K.; Millichap, John J.; Soares, Dinesh C.; Chin, Richard; McLellan, Ailsa; FitzPatrick, David R.; Elmslie, Frances; Lees, Melissa M.; Schaefer, G. Bradley; Abbott, Catherine M. Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 4(2016) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. (25th April 2015) Authors: Zarate, Yuri A.; Bosanko, Katherine A.; Bhoj, Elizabeth; Ganetzky, Rebecca; Starr, Lois J.; Zackai, Elaine H.; Schaefer, G. Bradley Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2. (March 2015) Authors: Zarate, Yuri A.; Bell, Carla; Schaefer, G. Bradley Journal: Cleft palate-craniofacial journal Issue: Volume 52:Number 2(2015) Page Start: 237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Rates of diagnostic genetic testing in a tertiary ocular genetics clinic. (3rd May 2020) Authors: Lowery, R. Scott; Dehnel, John R.; Schaefer, G. Bradley; Uwaydat, Sami H. Journal: Ophthalmic genetics Issue: Volume 41:Number 3(2020) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rates of diagnostic genetic testing in a tertiary ocular genetics clinic. (3rd May 2020) Authors: Lowery, R. Scott; Dehnel, John R.; Schaefer, G. Bradley; Uwaydat, Sami H. Journal: Ophthalmic genetics Issue: Volume 41:Number 3(2020) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum. Issue 7 (10th June 2016) Authors: Sellars, Elizabeth A.; Sullivan, Bonnie R.; Schaefer, G. Bradley Journal: Clinical case reports Issue: Volume 4:Issue 7(2016) Page Start: 696 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗