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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Among authors: baillie gj. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420144
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Vanderver A, et al. Among authors: baillie gj. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9. Ann Neurol. 2016. PMID: 27159321 Free PMC article.
The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic Lineage.
Baek S, Oh TG, Secker G, Sutton DL, Okuda KS, Paterson S, Bower NI, Toubia J, Koltowska K, Capon SJ, Baillie GJ, Simons C, Muscat GEO, Lagendijk AK, Smith KA, Harvey NL, Hogan BM. Baek S, et al. Among authors: baillie gj. Dev Cell. 2019 Apr 22;49(2):279-292.e5. doi: 10.1016/j.devcel.2019.03.017. Dev Cell. 2019. PMID: 31014480 Free article.
The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm.
Koopman CD, De Angelis J, Iyer SP, Verkerk AO, Da Silva J, Berecki G, Jeanes A, Baillie GJ, Paterson S, Uribe V, Ehrlich OV, Robinson SD, Garric L, Petrou S, Simons C, Vetter I, Hogan BM, de Boer TP, Bakkers J, Smith KA. Koopman CD, et al. Among authors: baillie gj. Proc Natl Acad Sci U S A. 2021 Mar 2;118(9):e2018220118. doi: 10.1073/pnas.2018220118. Proc Natl Acad Sci U S A. 2021. PMID: 33597309 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34004883
36 results