Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry

por Pollak, Rebecca M., Murphy, Melissa M., Epstein, Michael P., Zwick, Michael E., Klaiman, Cheryl, Saulnier, Celine A., Mulle, Jennifer G.
Publicado 2019

Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome: A Case-Control Study

por Wawrzonek, Addam J., Sharp, William, Burrell, Teresa Lindsey, Gillespie, Scott E., Pollak, Rebecca M., Murphy, Melissa M., Mulle, Jennifer G.
Publicado 2022

Musculoskeletal phenotypes in 3q29 deletion syndrome

por Pollak, Rebecca M, Tilmon, Jacob C, Murphy, Melissa M, Gambello, Michael J, Russo, Rossana Sanchez, Dormans, John P, Mulle, Jennifer G
Publicado 2023

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

por Pollak, Rebecca M, Burrell, T Lindsey, Cubells, Joseph F, Klaiman, Cheryl, Murphy, Melissa M, Saulnier, Celine A, Walker, Elaine F, White, Stormi Pulver, Mulle, Jennifer G
Publicado 2023

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

por Pollak, Rebecca M., Pincus, Jordan E., Burrell, T. Lindsey, Cubells, Joseph F., Klaiman, Cheryl, Murphy, Melissa M., Saulnier, Celine A., Walker, Elaine F., White, Stormi Pulver, Mulle, Jennifer G.
Publicado 2022

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

por Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, Buxbaum, Joseph D.
Publicado 2022

Metabolic effects of the schizophrenia-associated 3q29 deletion

por Pollak, Rebecca M., Purcell, Ryan H., Rutkowski, Timothy P., Malone, Tamika, Pachura, Kimberly J., Bassell, Gary J., Epstein, Michael P., Dawson, Paul A., Smith, Matthew R., Jones, Dean P., Zwick, Michael E., Warren, Stephen T., Caspary, Tamara, Weinshenker, David, Mulle, Jennifer G.
Publicado 2022