1. A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). Issue 7 (20th May 2015) Authors: Pattnaik, Bikash R.; Shahi, Pawan K.; Marino, Meghan J.; Liu, Xinying; York, Nathaniel; Brar, Simran; Chiang, John; Pillers, De‐Ann M.; Traboulsi, Elias I. Journal: Human mutation Issue: Volume 36:Issue 7(2015:Jul.) Page Start: 720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. (June 2015) Authors: Cebulla, Colleen M.; Binkley, Elaine M.; Pilarski, Robert; Massengill, James B.; Rai, Karan; Liebner, David A.; Marino, Meghan J.; Singh, Arun D.; Abdel-Rahman, Mohamed H. Journal: Ophthalmic genetics Issue: Volume 36:Number 2(2015:Jun.) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion. (22nd January 2013) Authors: Utz, Virginia M.; Beight, Craig D.; Marino, Meghan J.; Hagstrom, Stephanie A.; Traboulsi, Elias I. Journal: Ophthalmic genetics Issue: Volume 34:Number 4(2013:Dec.) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Germline BAP1 alterations in familial uveal melanoma. Issue 2 (26th October 2016) Authors: Rai, Karan; Pilarski, Robert; Boru, Getachew; Rehman, Muneeb; Saqr, Ahmad H.; Massengill, James B.; Singh, Arun; Marino, Meghan J.; Davidorf, Frederick H.; Cebulla, Colleen M.; H. Abdel‐Rahman, Mohamed Journal: Genes, chromosomes & cancer Issue: Volume 56:Issue 2(2017:Feb.) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Germline large deletion of BAP1 and decreased expression in non‐tumor choroid in uveal melanoma patients with high risk for inherited cancer. Issue 9 (23rd April 2019) Authors: Boru, Getachew; Grosel, Timothy W.; Pilarski, Robert; Stautberg, Meredith; Massengill, James B.; Jeter, Joanne; Singh, Arun; Marino, Meghan J.; McElroy, Joseph P.; Davidorf, Frederick H.; Cebulla, Colleen M.; Abdel‐Rahman, Mohamed H. Journal: Genes, chromosomes & cancer Issue: Volume 58:Issue 9(2019) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lessons learned from family history in ocular genetics. Issue 5 (July 2015) Authors: Marino, Meghan J. Journal: Current opinion in ophthalmology Issue: Volume 26:Issue 5(2015:Sep.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Lessons learned from family history in ocular genetics. Issue 5 (July 2015) Authors: Marino, Meghan J. Journal: Current opinion in ophthalmology Issue: Volume 26:Issue 5(2015:Sep.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations*. (2nd April 2016) Authors: Bonilha, Vera L.; Rayborn, Mary E.; Bell, Brent A.; Marino, Meghan J.; Fishman, Gerald A.; Hollyfield, Joe G. Journal: Ophthalmic genetics Issue: Volume 37:Number 2(2016) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations. (2nd April 2016) Authors: Bonilha, Vera L.; Rayborn, Mary E.; Bell, Brent A.; Marino, Meghan J.; Fishman, Gerald A.; Hollyfield, Joe G. Journal: Ophthalmic genetics Issue: Volume 37:Number 2(2016) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗