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Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

Sangermano, Riccardo, Pooja Biswas, Lori Sullivan, Emily Place, Shyamanga Borooah, Juerg Straubhaar, Eric Pierce, Stephen Daiger, Kinga Bujakowska, and Radha Ayaggari. 2022. “Identification of a Novel Large Multigene Deletion and a Frameshift Indel in PDE6B As the Underlying Cause of Early-Onset Recessive Rod-Cone Degeneration”. Cold Spring Harb Mol Case Stud 8 (7).

Wendy Li Linderman, MD

Profiles Mass Eye and Ear (clinical) Mass Eye and Ear (research) Harvard Catalyst

Rohan Bajaj, MD

Dr. Rohan Bajaj earned his BS in Anatomy and Cell Biology at McGill University, where he graduated summa cum laude and was placed on the Dean’s Honor List. He studied neurogenesis and nerve repair in C. elegans and was the recipient of the Alan and Harriet Susie Tenenhouse Scholarship in Science and...