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Page 1
Genomic Data and Privacy.
Myers CT, Kumar RD, Pilgram L, Bonomi L, Thomas M, Griffith OL, Fullerton SM, Gibbs RA. Myers CT, et al. Clin Chem. 2025 Jan 3;71(1):10-17. doi: 10.1093/clinchem/hvae184. Clin Chem. 2025. PMID: 39749498 No abstract available.
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Among authors: myers ct. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015
Somatic activating BRAF variants cause isolated lymphatic malformations.
Zenner K, Jensen DM, Dmyterko V, Shivaram GM, Myers CT, Paschal CR, Rudzinski ER, Pham MM, Cheng VC, Manning SC, Bly RA, Ganti S, Perkins JA, Bennett JT. Zenner K, et al. Among authors: myers ct. HGG Adv. 2022 Mar 15;3(2):100101. doi: 10.1016/j.xhgg.2022.100101. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35373151 Free PMC article.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Manivannan SN, et al. Among authors: myers ct. Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. Brain. 2022. PMID: 34788397 Free PMC article.
Rickettsiosis subcommittee report to the tick-borne disease working group.
Walker DH, Myers CTE, Blanton LS, Bloch KC, Fowler VG Jr, Gaines DN, Paddock CD, Yaglom HD. Walker DH, et al. Among authors: myers cte. Ticks Tick Borne Dis. 2022 Jan;13(1):101855. doi: 10.1016/j.ttbdis.2021.101855. Epub 2021 Oct 29. Ticks Tick Borne Dis. 2022. PMID: 34739931
Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Braden RO, et al. Among authors: myers ct. Dev Med Child Neurol. 2021 Dec;63(12):1417-1426. doi: 10.1111/dmcn.14955. Epub 2021 Jun 9. Dev Med Child Neurol. 2021. PMID: 34109629 Free article.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. Schneider AL, et al. Among authors: myers ct. Epilepsia. 2021 Jan;62(1):e13-e21. doi: 10.1111/epi.16784. Epub 2020 Dec 6. Epilepsia. 2021. PMID: 33280099
84 results