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Page 1
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD; Developmental Synaptopathies Consortium. Breen MS, et al. Among authors: pollak rm. HGG Adv. 2022 Sep 26;4(1):100145. doi: 10.1016/j.xhgg.2022.100145. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36276299 Free PMC article.
Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.
Pollak RM, Sefik E, Aberizk K, Duan K, Espana R, Guest RM, Goldman-Yassen AE, Goines K, Novacek DM, Saulnier CA, Klaiman C, Pulver S, Cubells JF, Burrell TL, Shultz S, Walker EF, Murphy MM, Mulle JG. Pollak RM, et al. Psychol Med. 2024 Oct 4;54(14):1-12. doi: 10.1017/S0033291724002320. Online ahead of print. Psychol Med. 2024. PMID: 39365000 Free PMC article.
Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG. Pollak RM, et al. J Intellect Disabil Res. 2024 Feb;68(2):113-127. doi: 10.1111/jir.13094. Epub 2023 Sep 22. J Intellect Disabil Res. 2024. PMID: 37740553
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Sanchez Russo R, Dormans JP, Mulle JG. Pollak RM, et al. Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10. Am J Med Genet A. 2023. PMID: 37691301 Free PMC article.
Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice.
Osman A, Mervosh NL, Strat AN, Euston TJ, Zipursky G, Pollak RM, Meckel KR, Tyler SR, Chan KL, Buxbaum Grice A, Drapeau E, Litichevskiy L, Gill J, Zeldin SM, Thaiss CA, Buxbaum JD, Breen MS, Kiraly DD. Osman A, et al. Among authors: pollak rm. Brain Behav Immun. 2023 Nov;114:311-324. doi: 10.1016/j.bbi.2023.08.020. Epub 2023 Aug 30. Brain Behav Immun. 2023. PMID: 37657643 Free PMC article.
Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG. Pollak RM, et al. J Autism Dev Disord. 2024 Aug;54(8):3142-3154. doi: 10.1007/s10803-023-06034-2. Epub 2023 Jun 24. J Autism Dev Disord. 2024. PMID: 37354284 Free PMC article.
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