71. Psychiatric Prescription Patterns and Treatment Outcomes in 3q29 Deletion Syndrome M Harner, D Bishop, J Purcell, T Irving, J Platzman, R Pollak, A Deo, ... Biological Psychiatry 95 (10), S128, 2024 | | 2024 |
Investigating Convergent Cellular Phenotypes in Schizophrenia-Associated Copy Number Variants R Purcell, V Faundez, J Mulle, G Bassell Biological Psychiatry 95 (10), S17-S18, 2024 | | 2024 |
Psychosis-Associated Psychophysiological Biomarkers in CNV Deletion Syndromes and Their Association to Clinical and Cognitive Behaviors D Parker, O Ousley, S Imes, G Ruban, B Henshey, B Cuthbert, N Massa, ... Biological Psychiatry 95 (10), S16, 2024 | | 2024 |
Neuroanatomical and Behavioral Profiles in 3q29 Deletion Syndrome: An Integrative Investigation of Gene-Brain-Behavior Relationships E Sefik, RM Guest, K Duan, K Aberizk, R Espana, K Goines, DM Novacek, ... Biological Psychiatry 95 (10), S17, 2024 | | 2024 |
446. Subthreshold Psychosis in 3q29 Deletion Syndrome D Bishop, MK Harner, T Irving, J Purcell, R Pollak, A Deo, M Pato, J Mulle Biological Psychiatry 95 (10), S282, 2024 | | 2024 |
Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome E Sefik, K Duan, Y Li, B Sholar, L Evans, J Pincus, Z Ammar, MM Murphy, ... Molecular psychiatry, 1-17, 2024 | 2 | 2024 |
Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity E Sefik, RM Guest, K Aberizk, R Espana, K Goines, DM Novacek, ... Psychiatry Research 335, 115867, 2024 | | 2024 |
Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC H Zhang, L Peyton, A McCarroll, SD de León Guerrerro, S Zhang, ... bioRxiv, 2024 | | 2024 |
Adaptive behaviour deficits in individuals with 3q29 deletion syndrome RM Pollak, TL Burrell, JF Cubells, C Klaiman, MM Murphy, CA Saulnier, ... Journal of Intellectual Disability Research 68 (2), 113-127, 2024 | 2 | 2024 |
Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry RM Pollak, M Mortillo, MM Murphy, JG Mulle Journal of Autism and Developmental Disorders, 1-11, 2024 | 1 | 2024 |
Beyond IQ: Executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome RM Pollak, E Sefik, K Aberizk, K Duan, R Espana, RM Guest, ... medRxiv, 2024.02. 22.24303212, 2024 | | 2024 |
Musculoskeletal phenotypes in 3q29 deletion syndrome RM Pollak, JC Tilmon, MM Murphy, MJ Gambello, R Sanchez Russo, ... American Journal of Medical Genetics Part A 191 (11), 2749-2756, 2023 | 1 | 2023 |
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion RH Purcell, E Sefik, E Werner, AT King, TJ Mosley, ME Merritt-Garza, ... Science Advances 9 (33), eadh0558, 2023 | 3 | 2023 |
Visual-motor integration deficits in 3q29 deletion syndrome RM Pollak, TL Burrell, JF Cubells, C Klaiman, MM Murphy, CA Saulnier, ... Journal of Autism and Developmental Disorders, 1-13, 2023 | 4 | 2023 |
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing F Yilmaz, U Gurusamy, TJ Mosley, P Hallast, K Kim, Y Mostovoy, ... Genome medicine 15 (1), 35, 2023 | 4 | 2023 |
The Schizophrenia-Associated 3q29 Deletion: Cross-Species Transcriptional Profiling Converges on Mitochondrial Dysregulation J Mulle, R Purcell, E Sefik, E Werner, V Faundez, S Sloan, G Bassell Biological Psychiatry 93 (9), S6, 2023 | | 2023 |
A distinct cognitive profile in individuals with 3q29 deletion syndrome C Klaiman, SP White, C Saulnier, M Murphy, L Burrell, J Cubells, ... Journal of Intellectual Disability Research 67 (3), 216-227, 2023 | 13 | 2023 |
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion RH Purcell, E Sefik, E Werner, AT King, TJ Mosley, ME Merritt-Garza, ... bioRxiv, 2023.01. 27.525748, 2023 | | 2023 |
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing B Biedziak, J Dąbrowska, A Szponar‐Żurowska, E Bukowska‐Olech, ... American Journal of Medical Genetics Part A 191 (1), 205-219, 2023 | | 2023 |
Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome RM Pollak, JE Pincus, TL Burrell, JF Cubells, C Klaiman, MM Murphy, ... Molecular Autism 13 (1), 50, 2022 | 3 | 2022 |