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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF. Veeramah KR, et al. Among authors: johnstone l. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3. Epilepsia. 2013. PMID: 23647072 Free PMC article.
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S. Hammer MF, et al. Among authors: johnstone l. PLoS One. 2017 Jul 7;12(7):e0180485. doi: 10.1371/journal.pone.0180485. eCollection 2017. PLoS One. 2017. PMID: 28686619 Free PMC article.
Group IIA secreted phospholipase A2 is associated with the pathobiology leading to COVID-19 mortality.
Snider JM, You JK, Wang X, Snider AJ, Hallmark B, Zec MM, Seeds MC, Sergeant S, Johnstone L, Wang Q, Sprissler R, Carr TF, Lutrick K, Parthasarathy S, Bime C, Zhang HH, Luberto C, Kew RR, Hannun YA, Guerra S, McCall CE, Yao G, Del Poeta M, Chilton FH. Snider JM, et al. Among authors: johnstone l. J Clin Invest. 2021 Oct 1;131(19):e149236. doi: 10.1172/JCI149236. J Clin Invest. 2021. PMID: 34428181 Free PMC article. Clinical Trial.
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome.
Hurst SE, Liktor-Busa E, Moutal A, Parker S, Rice S, Szelinger S, Senner G, Hammer MF, Johnstone L, Ramsey K, Narayanan V, Perez-Miller S, Khanna M, Dahlin H, Lewis K, Craig D, Wang EH, Khanna R, Nelson MA. Hurst SE, et al. Among authors: johnstone l. Neuronal Signal. 2018 Jul 16;2(3):NS20180141. doi: 10.1042/NS20180141. eCollection 2018 Sep. Neuronal Signal. 2018. PMID: 32714589 Free PMC article.
161 results