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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Paciorkowski AR, et al. Among authors: ghoneim dh. Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5. Epilepsia. 2015. PMID: 25656163 Free PMC article.
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. Hansen J, et al. Among authors: ghoneim dh. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Am J Hum Genet. 2015. PMID: 25839329 Free PMC article.
Proteome-wide association study and functional validation identify novel protein markers for pancreatic ductal adenocarcinoma.
Zhu J, Wu K, Liu S, Masca A, Zhong H, Yang T, Ghoneim DH, Surendran P, Liu T, Yao Q, Liu T, Fahle S, Butterworth A, Alam MA, Vadgama JV, Deng Y, Deng HW, Wu C, Wu Y, Wu L. Zhu J, et al. Among authors: ghoneim dh. Gigascience. 2024 Jan 2;13:giae012. doi: 10.1093/gigascience/giae012. Gigascience. 2024. PMID: 38608280 Free PMC article.
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