Search Results - "Papetti, Ava"

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care by Sanchez Russo, Rossana, Gambello, Michael J., Murphy, Melissa M., Aberizk, Katrina, Black, Emily, Burrell, T. Lindsey, Carlock, Grace, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Goines, Katrina, Guest, Ryan M., Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J., Li, Longchuan, Novacek, Derek M., Saulnier, Celine A., Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys

“…Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by…”
Get full text

Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome by Sefik, Esra, Purcell, Ryan H., Walker, Elaine F., Bassell, Gary J., Mulle, Jennifer G.

“…The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this…”
Get full text

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome by Murphy, Melissa M, Lindsey Burrell, T, Cubells, Joseph F, España, Roberto Antonio, Gambello, Michael J, Goines, Katrina C B, Klaiman, Cheryl, Li, Longchuan, Novacek, Derek M, Papetti, Ava, Sanchez Russo, Rossana Lucia, Saulnier, Celine A, Shultz, Sarah, Walker, Elaine, Mulle, Jennifer Gladys

“…3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and…”
Get full text