Amor DJ - Search Results

1

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: amor dj. 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.

2

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

Amor DJ, Dahl HH, Bahlo M, Bankier A. Amor DJ, et al. Am J Med Genet A. 2007 Oct 1;143A(19):2236-41. doi: 10.1002/ajmg.a.31917. Am J Med Genet A. 2007. PMID: 17726694

3

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ. Yeung A, et al. Among authors: amor dj. Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772934

4

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Smith KR, et al. Among authors: amor dj. Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85. Genome Biol. 2011. PMID: 21917141 Free PMC article.

5

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Smith KR, Leventer RJ, Mackay MT, Pope K, Gillies G, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ. Smith KR, et al. Among authors: amor dj. Int J Stroke. 2014 Aug;9(6):E26-7. doi: 10.1111/ijs.12306. Int J Stroke. 2014. PMID: 25043520 No abstract available.

6

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ. Scerri T, et al. Among authors: amor dj. Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12. Ann Clin Transl Neurol. 2015. PMID: 26000329 Free PMC article.

7

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ. Amor DJ, et al. Neurol Genet. 2016 Oct 18;2(6):e114. doi: 10.1212/NXG.0000000000000114. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27790638 Free PMC article.

8

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.

Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA. Morgan AT, et al. Eur J Hum Genet. 2018 Jan;26(1):75-84. doi: 10.1038/s41431-017-0035-9. Epub 2017 Dec 11. Eur J Hum Genet. 2018. PMID: 29225339 Free PMC article.

9

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

Mei C, Fedorenko E, Amor DJ, Boys A, Hoeflin C, Carew P, Burgess T, Fisher SE, Morgan AT. Mei C, et al. Among authors: amor dj. Eur J Hum Genet. 2018 May;26(5):676-686. doi: 10.1038/s41431-018-0102-x. Epub 2018 Feb 14. Eur J Hum Genet. 2018. PMID: 29445122 Free PMC article.

10

Characterization of speech and language phenotype in children with NRXN1 deletions.

Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Brignell A, et al. Among authors: amor dj. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30358070

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