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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein, Catherine, Robin Kleiman, Elizabeth Engle, Meghan Towne, Eugene D’Angelo, Timothy Yu, Alan Beggs, et al. 2016. “Overlapping 16p13.11 Deletion and Gain of Copies Variations Associated With Childhood Onset Psychosis Include Genes With Mechanistic Implications for Autism Associated Pathways: Two Case Reports.”. Am J Med Genet A 170 (5): 1165-73.

eye Insights Issue 04: Genetic Testing

In e ye Insights™ Issue 4, Massachusetts Eye and Ear specialists publish vital information about the usefulness of genetic diagnostic testing for eye diseases. Janey Wiggs, MD, PhD, provides guidelines for integrating genetic diagnostic testing into clinical care for patients with inherited retinal...

Welcome Letter

Dear Colleagues: The accelerated pace of molecular discoveries during the past two decades, coupled with an evolving “precision medicine” model in healthcare, are fueling an increase in the number of people who undergo genetic testing. In Ophthalmology, genetic testing is still in its early stages...

General Guidelines for Genetic Testing

Offer genetic testing to patients whose clinical findings suggest a Mendelian disorder with a known gene mutation. If you are unfamiliar with the specific testing required, encourage the involvement of a board-certified medical geneticist, genetic counselor, or both for all genetic tests. This will...