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Publications

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.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. Brightman, DS; Lokulo-Sodipe, O; Searle, BA; Mackay, DJ G; Davies, JH; Temple, IK; Dauber, A. Hormone Research in Paediatrics. 2019; 90:407-413.

MLL1 is essential for retinal neurogenesis and horizontal inner neuron integrity. Brightman, DS; Grant, RL; Ruzycki, PA; Suzuki, R; Hennig, AK; Chen, S. Scientific Reports. 2018; 8.

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. Brightman, DS; Ejaz, S; Dauber, A. Clinical Case Reports. 2018; 6:1531-1534.