Cooley Coleman JA - Search Results

1

MEF2C regulates NK cell effector functions through control of lipid metabolism.

Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Cooley Coleman JA, Skinner SA, Cowan CW, O'Sullivan TE. Li JH, et al. Among authors: cooley coleman ja. Nat Immunol. 2024 May;25(5):778-789. doi: 10.1038/s41590-024-01811-2. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589619

2

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.

Washington C, Stolerman ES, Cooley-Coleman JA, Jones JR, Chen-Deutsch X. Washington C, et al. Among authors: cooley coleman ja. Clin Case Rep. 2023 Apr 7;11(4):e7165. doi: 10.1002/ccr3.7165. eCollection 2023 Apr. Clin Case Rep. 2023. PMID: 37038535 Free PMC article.

3

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Cooley Coleman JA, et al. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. Hum Mol Genet. 2023. PMID: 36458889

4

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. McGee SR, et al. Among authors: cooley coleman ja. Hum Mol Genet. 2023 Jan 13;32(3):386-401. doi: 10.1093/hmg/ddac200. Hum Mol Genet. 2023. PMID: 35981081 Free PMC article.

5

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. Cooley Coleman JA, et al. Am J Med Genet A. 2022 Oct;188(10):2988-2998. doi: 10.1002/ajmg.a.62913. Epub 2022 Aug 4. Am J Med Genet A. 2022. PMID: 35924478

6

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. Sohn YB, et al. Among authors: cooley coleman ja. Mol Genet Metab Rep. 2022 May 3;31:100875. doi: 10.1016/j.ymgmr.2022.100875. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782621 Free PMC article.

7

Clinical findings from the landmark MEF2C-related disorders natural history study.

Cooley Coleman JA, Sarasua SM, Moore HW, Boccuto L, Cowan CW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Mol Genet Genomic Med. 2022 Jun;10(6):e1919. doi: 10.1002/mgg3.1919. Epub 2022 Apr 13. Mol Genet Genomic Med. 2022. PMID: 35416405 Free PMC article. Review.

8

Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.

Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Am J Med Genet A. 2021 Dec;185(12):3884-3894. doi: 10.1002/ajmg.a.62412. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184825 Review.

9

Tremors: A concept analysis.

Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Nurs Open. 2021 Sep;8(5):2419-2428. doi: 10.1002/nop2.840. Epub 2021 Apr 2. Nurs Open. 2021. PMID: 33797860 Free PMC article.

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