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Page 1
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X. Liu F, et al. Among authors: gusella jf. Brain. 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. Brain. 2023. PMID: 36869767
Monozygotic twins discordant for neurofibromatosis 1.
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF. Kaplan L, et al. Among authors: gusella jf. Am J Med Genet A. 2010 Mar;152A(3):601-6. doi: 10.1002/ajmg.a.33271. Am J Med Genet A. 2010. PMID: 20186797 Free PMC article.
Age- and gender-dependent obesity in individuals with 16p11.2 deletion.
Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y; Children's Hospital Boston Genotype Phenotype Study Group. Yu Y, et al. Among authors: gusella jf. J Genet Genomics. 2011 Sep 20;38(9):403-9. doi: 10.1016/j.jgg.2011.08.003. Epub 2011 Aug 17. J Genet Genomics. 2011. PMID: 21930099
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Smith MJ, et al. Among authors: gusella jf. Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949514 Free PMC article.
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y. Wang J, et al. Among authors: gusella jf. J Bone Miner Res. 2016 Apr;31(4):882-9. doi: 10.1002/jbmr.2761. Epub 2015 Dec 28. J Bone Miner Res. 2016. PMID: 26643732 Free PMC article.
539 results