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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. Among authors: mulle jg. 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.
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Russo RS, Dormans JP, Mulle JG. Pollak RM, et al. Among authors: mulle jg. 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.
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG. Purcell RH, et al. Among authors: mulle jg. bioRxiv [Preprint]. 2023 May 26:2023.01.27.525748. doi: 10.1101/2023.01.27.525748. bioRxiv. 2023. PMID: 36747819 Free PMC article. Updated. Preprint.
Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.
Sefik E, Duan K, Li Y, Sholar B, Evans L, Pincus J, Ammar Z, Murphy MM, Klaiman C, Saulnier CA, Pulver SL, Goldman-Yassen AE, Guo Y, Walker EF, Li L, Mulle JG, Shultz S. Sefik E, et al. Among authors: mulle jg. Mol Psychiatry. 2024 May 14. doi: 10.1038/s41380-024-02584-8. Online ahead of print. Mol Psychiatry. 2024. PMID: 38744992
Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC.
Zhang H, Peyton L, McCarroll A, de León Guerrerro SD, Zhang S, Gowda P, Sirkin D, El Achwah M, Duhe A, Wood WG, Jamison B, Tracy G, Pollak R, Hart RP, Pato CN, Mulle JG, Sanders AR, Pang ZP, Duan J. Zhang H, et al. Among authors: mulle jg. bioRxiv [Preprint]. 2024 Mar 19:2024.03.18.585542. doi: 10.1101/2024.03.18.585542. bioRxiv. 2024. PMID: 38562852 Free PMC article. Preprint.
Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.
Sefik E, Guest RM, Aberizk K, Espana R, Goines K, Novacek DM, Murphy MM, Goldman-Yassen AE, Cubells JF, Ousley O, Li L, Shultz S, Walker EF, Mulle JG. Sefik E, et al. Among authors: mulle jg. Psychiatry Res. 2024 May;335:115867. doi: 10.1016/j.psychres.2024.115867. Epub 2024 Mar 21. Psychiatry Res. 2024. PMID: 38537595
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. Among authors: mulle jg. 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. Among authors: mulle jg. 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
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG. Purcell RH, et al. Among authors: mulle jg. Sci Adv. 2023 Aug 18;9(33):eadh0558. doi: 10.1126/sciadv.adh0558. Epub 2023 Aug 16. Sci Adv. 2023. PMID: 37585521 Free PMC article.
88 results