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Results: 1 to 20 of 36

1.

Corrigendum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Ramos P, Karnezis AN, Craig DW, Sekulic A, Russel ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.

Nat Genet. 2014 Jun 26;46(7):759. doi: 10.1038/ng0714-759a. No abstract available.

PMID:
24965735
[PubMed - in process]
2.

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.

Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F, White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ, Van Camp G, Friedman RA.

Eur J Hum Genet. 2014 Jun 18. doi: 10.1038/ejhg.2014.56. [Epub ahead of print]

PMID:
24939585
[PubMed - as supplied by publisher]
3.

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.

Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

PMID:
24658001
[PubMed - indexed for MEDLINE]
4.

Genetic implication of a novel thiamine transporter in human hypertension.

Zhang K, Huentelman MJ, Rao F, Sun EI, Corneveaux JJ, Schork AJ, Wei Z, Waalen J, Miramontes-Gonzalez JP, Hightower CM, Maihofer AX, Mahata M, Pastinen T, Ehret GB; International Consortium for Blood Pressure Genome-Wide Association Studies, Schork NJ, Eskin E, Nievergelt CM, Saier MH Jr, O'Connor DT.

J Am Coll Cardiol. 2014 Apr 22;63(15):1542-55. doi: 10.1016/j.jacc.2014.01.007. Epub 2014 Feb 5.

PMID:
24509276
[PubMed - indexed for MEDLINE]
5.

A cellular model of amyloid precursor protein processing and amyloid-β peptide production.

Macias MP, Gonzales AM, Siniard AL, Walker AW, Corneveaux JJ, Huentelman MJ, Sabbagh MN, Decourt B.

J Neurosci Methods. 2014 Feb 15;223:114-22. doi: 10.1016/j.jneumeth.2013.11.024. Epub 2013 Dec 12.

PMID:
24333289
[PubMed - in process]
6.

Genetic susceptibility for Alzheimer disease neuritic plaque pathology.

Shulman JM, Chen K, Keenan BT, Chibnik LB, Fleisher A, Thiyyagura P, Roontiva A, McCabe C, Patsopoulos NA, Corneveaux JJ, Yu L, Huentelman MJ, Evans DA, Schneider JA, Reiman EM, De Jager PL, Bennett DA.

JAMA Neurol. 2013 Sep 1;70(9):1150-7. doi: 10.1001/jamaneurol.2013.2815.

PMID:
23836404
[PubMed - indexed for MEDLINE]
7.

Identification of functional variants from whole-exome sequencing, combined with neuroimaging genetics.

Nho K, Corneveaux JJ, Kim S, Lin H, Risacher SL, Shen L, Swaminathan S, Ramanan VK, Liu Y, Foroud T, Inlow MH, Siniard AL, Reiman RA, Aisen PS, Petersen RC, Green RC, Jack CR, Weiner MW, Baldwin CT, Lunetta K, Farrer LA; Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) Study, Furney SJ, Lovestone S, Simmons A, Mecocci P, Vellas B, Tsolaki M, Kloszewska I, Soininen H; AddNeuroMed Consortium, McDonald BC, Farlow MR, Ghetti B; Indiana Memory and Aging Study, Huentelman MJ, Saykin AJ; Alzheimer's Disease Neuroimaging Initiative (ADNI).

Mol Psychiatry. 2013 Jul;18(7):739. doi: 10.1038/mp.2013.81. No abstract available.

PMID:
23787478
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment.

Nho K, Corneveaux JJ, Kim S, Lin H, Risacher SL, Shen L, Swaminathan S, Ramanan VK, Liu Y, Foroud T, Inlow MH, Siniard AL, Reiman RA, Aisen PS, Petersen RC, Green RC, Jack CR, Weiner MW, Baldwin CT, Lunetta K, Farrer LA; Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) Study, Furney SJ, Lovestone S, Simmons A, Mecocci P, Vellas B, Tsolaki M, Kloszewska I, Soininen H; AddNeuroMed Consortium, McDonald BC, Farlow MR, Ghetti B; Indiana Memory and Aging Study, Huentelman MJ, Saykin AJ; Alzheimer's Disease Neuroimaging Initiative (ADNI).

Mol Psychiatry. 2013 Jul;18(7):781-7. doi: 10.1038/mp.2013.24. Epub 2013 Apr 23.

PMID:
23608917
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ.

Neurobiol Aging. 2013 Aug;34(8):2077.e11-8. doi: 10.1016/j.neurobiolaging.2013.02.016. Epub 2013 Apr 9.

PMID:
23582655
[PubMed - indexed for MEDLINE]
10.

Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.

Napolioni V, Ober-Reynolds B, Szelinger S, Corneveaux JJ, Pawlowski T, Ober-Reynolds S, Kirwan J, Persico AM, Melmed RD, Craig DW, Smith CJ, Huentelman MJ.

J Neuroinflammation. 2013 Mar 14;10:38. doi: 10.1186/1742-2094-10-38.

PMID:
23497090
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R.

Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30.

PMID:
23360175
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes.

Eckalbar WL, Hutchins ED, Markov GJ, Allen AN, Corneveaux JJ, Lindblad-Toh K, Di Palma F, Alföldi J, Huentelman MJ, Kusumi K.

BMC Genomics. 2013 Jan 23;14:49. doi: 10.1186/1471-2164-14-49.

PMID:
23343042
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Swaminathan S, Huentelman MJ, Corneveaux JJ, Myers AJ, Faber KM, Foroud T, Mayeux R, Shen L, Kim S, Turk M, Hardy J, Reiman EM, Saykin AJ; Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD Family Study Group.

PLoS One. 2012;7(12):e50640. doi: 10.1371/journal.pone.0050640. Epub 2012 Dec 5.

PMID:
23227193
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ.

Am J Med Genet A. 2013 Jan;161A(1):145-52. doi: 10.1002/ajmg.a.35737. Epub 2012 Dec 3.

PMID:
23208854
[PubMed - indexed for MEDLINE]
15.

TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis.

Di Pietro F, Dato S, Carpi FM, Corneveaux JJ, Serfaustini S, Maoloni S, Mignini F, Huentelman MJ, Passarino G, Napolioni V.

J Gerontol A Biol Sci Med Sci. 2013 May;68(5):539-45. doi: 10.1093/gerona/gls223. Epub 2012 Nov 2.

PMID:
23125046
[PubMed - indexed for MEDLINE]
16.

Genome-wide association between DNA methylation and alternative splicing in an invertebrate.

Flores K, Wolschin F, Corneveaux JJ, Allen AN, Huentelman MJ, Amdam GV.

BMC Genomics. 2012 Sep 15;13:480. doi: 10.1186/1471-2164-13-480.

PMID:
22978521
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline.

Keenan BT, Shulman JM, Chibnik LB, Raj T, Tran D, Sabuncu MR; Alzheimer's Disease Neuroimaging Initiative, Allen AN, Corneveaux JJ, Hardy JA, Huentelman MJ, Lemere CA, Myers AJ, Nicholson-Weller A, Reiman EM, Evans DA, Bennett DA, De Jager PL.

Hum Mol Genet. 2012 May 15;21(10):2377-88. doi: 10.1093/hmg/dds054. Epub 2012 Feb 17.

PMID:
22343410
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Somitogenesis in the anole lizard and alligator reveals evolutionary convergence and divergence in the amniote segmentation clock.

Eckalbar WL, Lasku E, Infante CR, Elsey RM, Markov GJ, Allen AN, Corneveaux JJ, Losos JB, DeNardo DF, Huentelman MJ, Wilson-Rawls J, Rawls A, Kusumi K.

Dev Biol. 2012 Mar 1;363(1):308-19. doi: 10.1016/j.ydbio.2011.11.021. Epub 2011 Dec 8.

PMID:
22178152
[PubMed - indexed for MEDLINE]
Free Article
19.

A genome-wide scan for common variants affecting the rate of age-related cognitive decline.

De Jager PL, Shulman JM, Chibnik LB, Keenan BT, Raj T, Wilson RS, Yu L, Leurgans SE, Tran D, Aubin C, Anderson CD, Biffi A, Corneveaux JJ, Huentelman MJ; Alzheimer's Disease Neuroimaging Initiative, Rosand J, Daly MJ, Myers AJ, Reiman EM, Bennett DA, Evans DA.

Neurobiol Aging. 2012 May;33(5):1017.e1-15. doi: 10.1016/j.neurobiolaging.2011.09.033. Epub 2011 Nov 4.

PMID:
22054870
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Identification of risk loci for necrotizing meningoencephalitis in Pug dogs.

Barber RM, Schatzberg SJ, Corneveaux JJ, Allen AN, Porter BF, Pruzin JJ, Platt SR, Kent M, Huentelman MJ.

J Hered. 2011 Sep-Oct;102 Suppl 1:S40-6. doi: 10.1093/jhered/esr048.

PMID:
21846746
[PubMed - indexed for MEDLINE]
Free Article

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