Genetics
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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. Genetics in Medicine. 2024; 26:101007.
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Frontiers in Genetics. 2023; 14:1116919.
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. 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. Ophthalmic Genetics (Informa). 2023; 44:89-92.
P274: Expansion of the phenotype in Rubinstein-Taybi syndrome type 2 with the largest familial case. 2023; 1:100302.
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. 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. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:644-655.
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