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Page 1
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Among authors: goldstein db. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 Free PMC article.
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri GL, Walley NM, Soranzo N, Mulley J, Doherty CP, Kapoor A, Depondt C, Lynch JM, Scheffer IE, Heils A, Gehrmann A, Kinirons P, Gandhi S, Satishchandra P, Wood NW, Anand A, Sander T, Berkovic SF, Delanty N, Goldstein DB, Sisodiya SM. Cavalleri GL, et al. Among authors: goldstein db. Epilepsia. 2007 Apr;48(4):706-12. doi: 10.1111/j.1528-1167.2007.00977.x. Epilepsia. 2007. PMID: 17437413 Free article.
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KL, Hunt P, Ge D, Heinzen EL, Maia JM, Shianna KV, Weale ME, Cherkas LF, Clement G, Spector TD, Gibson G, Goldstein DB. Need AC, et al. Among authors: goldstein db. Hum Mol Genet. 2009 Dec 1;18(23):4650-61. doi: 10.1093/hmg/ddp413. Epub 2009 Sep 4. Hum Mol Genet. 2009. PMID: 19734545 Free PMC article.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Among authors: goldstein db. Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398883 Free PMC article.
Ethical challenges in genotype-driven research recruitment.
Beskow LM, Linney KN, Radtke RA, Heinzen EL, Goldstein DB. Beskow LM, et al. Among authors: goldstein db. Genome Res. 2010 Jun;20(6):705-9. doi: 10.1101/gr.104455.109. Epub 2010 Apr 23. Genome Res. 2010. PMID: 20418491 Free PMC article. No abstract available.
Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.
Catarino CB, Kasperavičiūtė D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, Dorn T, Grunwald T, Chaila E, Depondt C, Krämer G, Delanty N, Goldstein DB, Sisodiya SM. Catarino CB, et al. Among authors: goldstein db. Epilepsia. 2011 Aug;52(8):1388-92. doi: 10.1111/j.1528-1167.2011.03087.x. Epub 2011 Jun 2. Epilepsia. 2011. PMID: 21635232 Free PMC article.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: goldstein db. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
553 results