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Results: 1 to 20 of 78

1.

Two further blood pressure Loci identified in ion channel genes with a genecentric approach.

McCarthy NS, Vangjeli C, Cavalleri GL, Delanty N, Shianna KV, Surendran P, O'Brien E, Munroe PB, Masca N, Tomaszewski M, Samani NJ, Stanton AV.

Circ Cardiovasc Genet. 2014 Dec;7(6):873-9. doi: 10.1161/CIRCGENETICS.113.000190. Epub 2014 Sep 10.

PMID:
25210050
[PubMed - in process]
2.

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.

Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M, Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J, Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL, Lieberman JA, Daly MJ, Sullivan PF.

Nat Commun. 2014 Sep 4;5:4757. doi: 10.1038/ncomms5757.

PMID:
25187353
[PubMed - in process]
3.

Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia.

Petousi N, Croft QP, Cavalleri GL, Cheng HY, Formenti F, Ishida K, Lunn D, McCormack M, Shianna KV, Talbot NP, Ratcliffe PJ, Robbins PA.

J Appl Physiol (1985). 2014 Apr 1;116(7):893-904. doi: 10.1152/japplphysiol.00535.2013. Epub 2013 Sep 12.

PMID:
24030663
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.

Lane J, McLaren PJ, Dorrell L, Shianna KV, Stemke A, Pelak K, Moore S, Oldenburg J, Alvarez-Roman MT, Angelillo-Scherrer A, Boehlen F, Bolton-Maggs PH, Brand B, Brown D, Chiang E, Cid-Haro AR, Clotet B, Collins P, Colombo S, Dalmau J, Fogarty P, Giangrande P, Gringeri A, Iyer R, Katsarou O, Kempton C, Kuriakose P, Lin J, Makris M, Manco-Johnson M, Tsakiris DA, Martinez-Picado J, Mauser-Bunschoten E, Neff A, Oka S, Oyesiku L, Parra R, Peter-Salonen K, Powell J, Recht M, Shapiro A, Stine K, Talks K, Telenti A, Wilde J, Yee TT, Wolinsky SM, Martinson J, Hussain SK, Bream JH, Jacobson LP, Carrington M, Goedert JJ, Haynes BF, McMichael AJ, Goldstein DB, Fellay J; NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI).

Hum Mol Genet. 2013 May 1;22(9):1903-10. doi: 10.1093/hmg/ddt033. Epub 2013 Jan 30.

PMID:
23372042
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D.

Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.

PMID:
23176824
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Host genetics of HIV acquisition and viral control.

Shea PR, Shianna KV, Carrington M, Goldstein DB.

Annu Rev Med. 2013;64:203-17. doi: 10.1146/annurev-med-052511-135400. Epub 2012 Sep 27. Review.

PMID:
23020875
[PubMed - indexed for MEDLINE]
7.

Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs.

Urban TJ, Shen Y, Stolz A, Chalasani N, Fontana RJ, Rochon J, Ge D, Shianna KV, Daly AK, Lucena MI, Nelson MR, Molokhia M, Aithal GP, Floratos A, Pe'er I, Serrano J, Bonkovsky H, Davern TJ, Lee WM, Navarro VJ, Talwalkar JA, Goldstein DB, Watkins PB; Drug-Induced Liver Injury Network; DILIGEN; EUDRAGENE; Spanish DILI Registry; International Serious Adverse Events Consortium.

Pharmacogenet Genomics. 2012 Nov;22(11):784-95. doi: 10.1097/FPC.0b013e3283589a76.

PMID:
22968431
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.

Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.

PMID:
22958903
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Using ERDS to infer copy-number variants in high-coverage genomes.

Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, Goldstein DB.

Am J Hum Genet. 2012 Sep 7;91(3):408-21. doi: 10.1016/j.ajhg.2012.07.004. Epub 2012 Aug 30.

PMID:
22939633
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

Zhu Q, Ge D, Heinzen EL, Dickson SP, Urban TJ, Zhu M, Maia JM, He M, Zhao Q, Shianna KV, Goldstein DB.

Am J Hum Genet. 2012 Sep 7;91(3):422-34. doi: 10.1016/j.ajhg.2012.07.010. Epub 2012 Aug 30.

PMID:
22939045
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM, Shianna KV, He M, Cirulli ET, Gumbs CE, Zhao Q, Campbell CR, Hong L, Rosenquist P, Putkonen A, Hallikainen T, Repo-Tiihonen E, Tiihonen J, Levy DL, Meltzer HY, Goldstein DB.

Am J Hum Genet. 2012 Aug 10;91(2):303-12. doi: 10.1016/j.ajhg.2012.06.018. Epub 2012 Aug 2.

PMID:
22863191
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2.

PMID:
22863189
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

PMID:
22842232
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Epi4K: gene discovery in 4,000 genomes.

Epi4K Consortium.

Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29.

PMID:
22642626
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Clinical application of exome sequencing in undiagnosed genetic conditions.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB.

J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11.

PMID:
22581936
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection.

Clark PJ, Thompson AJ, Zhu Q, Vock DM, Zhu M, Patel K, Harrison SA, Naggie S, Ge D, Tillmann HL, Urban TJ, Shianna K, Fellay J, Goodman Z, Noviello S, Pedicone LD, Afdhal N, Sulkowski M, Albrecht JK, Goldstein DB, McHutchison JG, Muir AJ.

Dig Dis Sci. 2012 Aug;57(8):2213-21. doi: 10.1007/s10620-012-2171-y. Epub 2012 Apr 29. Erratum in: Dig Dis Sci. 2012 Sep;57(9):2479.

PMID:
22543885
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of common variants associated with human hippocampal and intracranial volumes.

Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S, Maniega SM, Nho K, Nugent AC, O'Brien C, Papmeyer M, Pütz B, Ramasamy A, Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L, Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S, Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R, Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP, Kasperaviciute D, Kent JW Jr, Kochunov P, Lancaster JL, Lawrie SM, Liewald DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK, Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R, Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D, Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA, Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR Jr, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB, Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ, Walter H, Weiner MW; Alzheimer's Disease Neuroimaging Initiative; EPIGEN Consortium; IMAGEN Consortium; Saguenay Youth Study Group, Bis JC, Ikram MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, DeCarli C, Seshadri S; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner HG, Buckner RL, Cichon S, Coppola G, de Zubicaray GI, Deary IJ, Donohoe G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J, Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B, Wright MJ, Thompson PM; Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium.

Nat Genet. 2012 Apr 15;44(5):552-61. doi: 10.1038/ng.2250.

PMID:
22504417
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Interleukin 28B polymorphisms are the only common genetic variants associated with low-density lipoprotein cholesterol (LDL-C) in genotype-1 chronic hepatitis C and determine the association between LDL-C and treatment response.

Clark PJ, Thompson AJ, Zhu M, Vock DM, Zhu Q, Ge D, Patel K, Harrison SA, Urban TJ, Naggie S, Fellay J, Tillmann HL, Shianna K, Noviello S, Pedicone LD, Esteban R, Kwo P, Sulkowski MS, Afdhal N, Albrecht JK, Goldstein DB, McHutchison JG, Muir AJ; IDEAL investigators.

J Viral Hepat. 2012 May;19(5):332-40. doi: 10.1111/j.1365-2893.2011.01553.x. Epub 2012 Feb 22.

PMID:
22497812
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.

McCormack M, Urban TJ, Shianna KV, Walley N, Pandolfo M, Depondt C, Chaila E, O'Conner GD, Kasperavičiūtė D, Radtke RA, Heinzen EL, Sisodiya SM, Delanty N, Cavalleri GL.

Pharmacogenomics. 2012 Mar;13(4):399-405. doi: 10.2217/pgs.11.165.

PMID:
22379998
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD.

N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11.

PMID:
22236196
[PubMed - indexed for MEDLINE]
Free PMC Article

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