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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
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
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
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. 2023 Jun 24. doi: 10.1007/s10803-023-06034-2. Online ahead of print. J Autism Dev Disord. 2023. PMID: 37354284
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Russo RS, Dormans JP, Mulle JG. Pollak RM, et al. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23288084. doi: 10.1101/2023.04.03.23288084. medRxiv. 2023. PMID: 37066183 Free PMC article. Updated. Preprint.
Adaptive behavior 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. medRxiv [Preprint]. 2023 Apr 3:2023.03.31.23288022. doi: 10.1101/2023.03.31.23288022. medRxiv. 2023. PMID: 37066139 Free PMC article. Updated. Preprint.
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.
Metabolic effects of the schizophrenia-associated 3q29 deletion.
Pollak RM, Purcell RH, Rutkowski TP, Malone T, Pachura KJ, Bassell GJ, Epstein MP, Dawson PA, Smith MR, Jones DP, Zwick ME, Warren ST, Caspary T, Weinshenker D, Mulle JG. Pollak RM, et al. Transl Psychiatry. 2022 Feb 17;12(1):66. doi: 10.1038/s41398-022-01824-1. Transl Psychiatry. 2022. PMID: 35177588 Free PMC article.
17 results