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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH. McMichael G, et al. Among authors: gecz j. Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10. Mol Psychiatry. 2015. PMID: 25666757
The genetic basis of cerebral palsy.
Fahey MC, Maclennan AH, Kretzschmar D, Gecz J, Kruer MC. Fahey MC, et al. Among authors: gecz j. Dev Med Child Neurol. 2017 May;59(5):462-469. doi: 10.1111/dmcn.13363. Epub 2017 Jan 1. Dev Med Child Neurol. 2017. PMID: 28042670 Free article. Review.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC. Niemi MEK, et al. Among authors: gecz j. Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26. Nature. 2018. PMID: 30258228 Free PMC article.
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk C, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado LA, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J. MacLennan AH, et al. Among authors: gecz j. J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9. J Child Neurol. 2019. PMID: 30963790 Free PMC article. Review.
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Corbett MA, van Eyk CL, Webber DL, Bent SJ, Newman M, Harper K, Berry JG, Azmanov DN, Woodward KJ, Gardner AE, Slee J, Pérez-Jurado LA, MacLennan AH, Gecz J. Corbett MA, et al. Among authors: gecz j. NPJ Genom Med. 2019 May 31;4:11. doi: 10.1038/s41525-019-0086-7. eCollection 2019. NPJ Genom Med. 2019. PMID: 31231543 Free PMC article.
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL, Corbett MA, Frank MSB, Webber DL, Newman M, Berry JG, Harper K, Haines BP, McMichael G, Woenig JA, MacLennan AH, Gecz J. van Eyk CL, et al. Among authors: gecz j. NPJ Genom Med. 2019 Nov 4;4:27. doi: 10.1038/s41525-019-0101-z. eCollection 2019. NPJ Genom Med. 2019. PMID: 31700678 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: gecz j. Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28. Neurology. 2020. PMID: 32345733
374 results