Diana S. Brightman, PhD, MS, LGC

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. Nagaraj, CB; Brightman, DS; Rea, H; Wakefield, E; Harkavy, NV G; Dyer, L; Zhang, W. BMC Pediatrics. 2024; 24:34.

RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient. Du, X; Barnett, CL; Widmeyer, KM; Wang, X; Brightman, DS; Noonan, CW; Weaver, KN; Hopkin, RJ; Wu, Y. Clinical Case Reports. 2024; 12:e9537.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. Sabbagh, Q; Haghshenas, S; Piard, J; Trouvé, C; Amiel, J; Attié-Bitach, T; Balci, T; Barat-Houari, M; Belonis, A; Boute, O; Zuntini, R; Kerkhof, J; Sadikovic, B; Geneviève, D. Genetics in Medicine. 2024; 26:101007.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Qu’d, D; Schmitt, LM; Leston, A; Harris, JR; Slavotinek, A; Riddle, I; Brightman, DS; Simpson, BN. Frontiers in Genetics. 2023; 14:1116919.

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. Shah, SS; Fulton, A; Jabroun, M; Brightman, D; Simpson, BN; Bodamer, OA. American Journal of Medical Genetics, Part A. 2023; 191:1325-1338.

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report. Miraldi Utz, V; Ebert, JJ; Brightman, DS; Simpson, BN; Benoit, S; Sisk, RA. Ophthalmic Genetics (Informa). 2023; 44:89-92.

P274: Expansion of the phenotype in Rubinstein-Taybi syndrome type 2 with the largest familial case. Qu'd, D; Lander, J; Brightman, D; Simpson, B. 2023; 1:100302.

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Baker, EK; Ulm, EA; Belonis, A; Brightman, DS; Hallinan, BE; Leslie, ND; Miethke, AG; Vawter-Lee, M; Wu, Y; Pena, LD M. Frontiers in Genetics. 2022; 13:887698.

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. Utz, VM; Brightman, DS; Sandoval, MA; Hufnagel, R; Saal, HM. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:644-655.