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109 results

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Page 1
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB. Heinzen EL, et al. Among authors: walley nm. Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863189 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: walley nm. Epilepsia. 2007 Apr;48(4):706-12. doi: 10.1111/j.1528-1167.2007.00977.x. Epilepsia. 2007. PMID: 17437413 Free article.
The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression.
Walley NM, Julg B, Dickson SP, Fellay J, Ge D, Walker BD, Carrington M, Cohen MS, de Bakker PI, Goldstein DB, Shianna KV, Haynes BF, Letvin NL, McMichael AJ, Michael NL, Weintrob AC. Walley NM, et al. Cell Host Microbe. 2009 May 8;5(5):408-10; author reply 418-9. doi: 10.1016/j.chom.2009.04.011. Cell Host Microbe. 2009. PMID: 19454339 Free PMC article.
Host determinants of HIV-1 control in African Americans.
Pelak K, Goldstein DB, Walley NM, Fellay J, Ge D, Shianna KV, Gumbs C, Gao X, Maia JM, Cronin KD, Hussain SK, Carrington M, Michael NL, Weintrob AC; Infectious Disease Clinical Research Program HIV Working Group; National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI). Pelak K, et al. Among authors: walley nm. J Infect Dis. 2010 Apr 15;201(8):1141-9. doi: 10.1086/651382. J Infect Dis. 2010. PMID: 20205591 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: walley nm. 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.
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: walley nm. 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.
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: [email protected]. International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: [email protected]. Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30. Lancet Neurol. 2014. PMID: 25087078 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL. Griffin NG, et al. Among authors: walley nm. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001735. doi: 10.1101/mcs.a001735. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28864461 Free PMC article.
109 results