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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
Developing video education materials for the return of genomic test results to parents and adolescents.
Lynch JA, Idleburg MJ, Kovacic MB, Childers-Buschle KE, Dufendach KR, Lipstein EA, McGowan ML, Myers MF, Prows CA.
Lynch JA, et al. Among authors: idleburg mj.
PEC Innov. 2022 Dec;1:100051. doi: 10.1016/j.pecinn.2022.100051. Epub 2022 May 10.
PEC Innov. 2022.
PMID: 36532300
Free PMC article.
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Madan-Khetarpal S, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H.
Chen G, et al. Among authors: idleburg mj.
J Clin Invest. 2022 Oct 3;132(19):e159806. doi: 10.1172/JCI159806.
J Clin Invest. 2022.
PMID: 35917186
Free PMC article.
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