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Page 1
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J. Khan K, et al. Among authors: coleman m. Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036918 Free PMC article.
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M. Johnson JL, et al. Among authors: coleman mj. Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1. Neuron. 2019. PMID: 31585809 Free PMC article.
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M. Bennett MF, et al. Among authors: coleman m. Eur J Hum Genet. 2020 Jul;28(7):973-978. doi: 10.1038/s41431-020-0606-z. Epub 2020 Mar 16. Eur J Hum Genet. 2020. PMID: 32203200 Free PMC article.
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois FJ, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Hildebrand MS, et al. Among authors: coleman m. Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28. Neurology. 2020. PMID: 32345733
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: coleman m. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
Transcriptome analysis of a ring chromosome 20 patient cohort.
Myers KA, Bennett MF, Hildebrand MS, Coleman MJ, Zhou G, Hollingsworth G, Cairns A, Riney K, Berkovic SF, Bahlo M, Scheffer IE. Myers KA, et al. Among authors: coleman mj. Epilepsia. 2021 Jan;62(1):e22-e28. doi: 10.1111/epi.16766. Epub 2020 Nov 18. Epilepsia. 2021. PMID: 33207017
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. Heron SE, et al. Among authors: coleman mj. Neurology. 2021 May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23. Neurology. 2021. PMID: 34038384 Free PMC article.
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G, Hildebrand MS, Bahlo M, King C, Coleman M, Green TE, Goldsmith J, Davis S, Gill D, Mandelstam S, Scheffer IE, Sadleir LG. de Valles-Ibáñez G, et al. Among authors: coleman m. Epilepsia Open. 2022 Mar;7(1):170-180. doi: 10.1002/epi4.12553. Epub 2021 Nov 18. Epilepsia Open. 2022. PMID: 34717047 Free PMC article.
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Skotte L, Fadista J, Bybjerg-Grauholm J, Appadurai V, Hildebrand MS, Hansen TF, Banasik K, Grove J, Albiñana C, Geller F, Bjurström CF, Vilhjálmsson BJ, Coleman M, Damiano JA, Burgess R, Scheffer IE, Pedersen OBV, Erikstrup C, Westergaard D, Nielsen KR, Sørensen E, Bruun MT, Liu X, Hjalgrim H, Pers TH, Mortensen PB, Mors O, Nordentoft M, Dreier JW, Børglum AD, Christensen J, Hougaard DM, Buil A, Hviid A, Melbye M, Ullum H, Berkovic SF, Werge T, Feenstra B. Skotte L, et al. Among authors: coleman m. Brain. 2022 Apr 18;145(2):555-568. doi: 10.1093/brain/awab260. Brain. 2022. PMID: 35022648 Free PMC article.
2,948 results