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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.
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.
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.
MLL1 is essential for retinal neurogenesis and horizontal inner neuron integrity.
Brightman, DS; Grant, RL; Ruzycki, PA; Suzuki, R; Hennig, AK; Chen, S.
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.
Brightman, DS; Ejaz, S; Dauber, A.
Clinical Case Reports.
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