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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: brooks s. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. Friez MJ, et al. Among authors: brooks ss. BMJ Open. 2016 Apr 29;6(4):e009537. doi: 10.1136/bmjopen-2015-009537. BMJ Open. 2016. PMID: 27130160 Free PMC article.
A CTCF-binding site in the Mdm1-Il22-Ifng locus shapes cytokine expression profiles and plays a critical role in early Th1 cell fate specification.
Liu C, Nagashima H, Fernando N, Bass V, Gopalakrishnan J, Signorella S, Montgomery W, Lim AI, Harrison O, Reich L, Yao C, Sun HW, Brooks SR, Jiang K, Nagarajan V, Zhao Y, Jung S, Phillips R, Mikami Y, Lareau CA, Kanno Y, Jankovic D, Aryee MJ, Pękowska A, Belkaid Y, O'Shea J, Shih HY. Liu C, et al. Among authors: brooks sr. Immunity. 2024 Apr 26:S1074-7613(24)00212-7. doi: 10.1016/j.immuni.2024.04.007. Online ahead of print. Immunity. 2024. PMID: 38697116
GENERATIVE MODELS FOR LARGE-SCALE SIMULATIONS OF CONNECTOME DEVELOPMENT.
Brooks SJ, Stamoulis C. Brooks SJ, et al. IEEE ICASSPW 2023 Workshop Proc ICASSP 2023 (2023). 2023 Jun;2023:10.1109/icasspw59220.2023.10193544. doi: 10.1109/icasspw59220.2023.10193544. Epub 2023 Aug 2. IEEE ICASSPW 2023 Workshop Proc ICASSP 2023 (2023). 2023. PMID: 38690158
2,431 results