Diana S Brightman

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

A. Dauber, Diana S Brightman, S. Ejaz, 2018, Clinical case reports.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

I. Temple, B. Searle, A. Dauber, 2019, Hormone Research in Paediatrics.

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center

N. Leslie, Loren D M Pena, B. Hallinan, 2022, Frontiers in Genetics.

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report

S. Benoit, Virginia Miraldi Utz, Diana S Brightman, 2022, Ophthalmic genetics.

Nrl‐Cre transgenic mouse mediates loxP recombination in developing rod photoreceptors

D. Hodzic, D. Razafsky, Shiming Chen, 2016, Genesis.

Systemic and ocular manifestations of a patient with mosaic ARID1A‐associated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

H. Saal, R. Hufnagel, Virginia Miraldi Utz, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

MLL1 is essential for retinal neurogenesis and horizontal inner neuron integrity

Shiming Chen, Philip A Ruzycki, Diana S Brightman, 2018, Scientific Reports.

Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome

O. Bodamer, Diana S Brightman, A. Fulton, 2023, American journal of medical genetics. Part A.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

L. Schmitt, A. Slavotinek, I. Riddle, 2023, Frontiers in Genetics.

MLL1 is essential for retinal neurogenesis and horizontal inner neuron integrity

A. Hennig, Shiming Chen, Philip A Ruzycki, 2018, Scientific Reports.