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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Piard J, Essien Umanah GK, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K. Piard J, et al. Among authors: rees mi. Brain. 2018 Jun 1;141(6):e50. doi: 10.1093/brain/awy100. Brain. 2018. PMID: 29659731 Free PMC article. No abstract available.
Next generation sequencing methodologies--an overview.
Pickrell WO, Rees MI, Chung SK. Pickrell WO, et al. Among authors: rees mi. Adv Protein Chem Struct Biol. 2012;89:1-26. doi: 10.1016/B978-0-12-394287-6.00001-X. Adv Protein Chem Struct Biol. 2012. PMID: 23046880 Review.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Fry AE, et al. Among authors: rees mi. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. Brain. 2018. PMID: 29365063 Free PMC article.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Cushion TD, et al. Among authors: rees mi. Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29. Brain. 2013. PMID: 23361065
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Thomas RH, et al. Among authors: rees mi. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26. J Neurol Neurosurg Psychiatry. 2015. PMID: 24970905
122 results