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Items: 1 to 20 of 50

1.

Next-generation profiling to identify the molecular etiology of Parkinson dementia.

Henderson-Smith A, Corneveaux JJ, De Both M, Cuyugan L, Liang WS, Huentelman M, Adler C, Driver-Dunckley E, Beach TG, Dunckley TL.

Neurol Genet. 2016 May 24;2(3):e75. doi: 10.1212/NXG.0000000000000075. eCollection 2016 Jun.

2.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined With a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G.

Hum Mutat. 2016 Apr 11. doi: 10.1002/humu.22999. [Epub ahead of print]

PMID:
27068579
3.

Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.

Kalani MY, Siniard AL, Corneveaux JJ, Bruhns R, Richholt R, Forseth J, Zabramski JM, Nakaji P, Spetzler RF, Huentelman MJ.

Neurosurgery. 2016 Jun;78(6):835-43. doi: 10.1227/NEU.0000000000001152.

PMID:
26606670
4.

Association of SNPs in EGR3 and ARC with Schizophrenia Supports a Biological Pathway for Schizophrenia Risk.

Huentelman MJ, Muppana L, Corneveaux JJ, Dinu V, Pruzin JJ, Reiman R, Borish CN, De Both M, Ahmed A, Todorov A, Cloninger CR, Zhang R, Ma J, Gallitano AL.

PLoS One. 2015 Oct 16;10(10):e0135076. doi: 10.1371/journal.pone.0135076. eCollection 2015.

5.

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

Schrauwen I, Hasin-Brumshtein Y, Corneveaux JJ, Ohmen J, White C, Allen AN, Lusis AJ, Van Camp G, Huentelman MJ, Friedman RA.

Hear Res. 2016 Mar;333:266-74. doi: 10.1016/j.heares.2015.08.013. Epub 2015 Sep 1.

PMID:
26341477
6.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L.

Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8.

7.

Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor.

Decker B, Davis BW, Rimbault M, Long AH, Karlins E, Jagannathan V, Reiman R, Parker HG, Drögemüller C, Corneveaux JJ, Chapman ES, Trent JM, Leeb T, Huentelman MJ, Wayne RK, Karyadi DM, Ostrander EA.

Genome Res. 2015 Nov;25(11):1646-55. doi: 10.1101/gr.190314.115. Epub 2015 Jul 31.

8.

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.

PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015.

9.

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261.

PMID:
26091538
10.

An integrated framework for reporting clinically relevant biomarkers from paired tumor/normal genomic and transcriptomic sequencing data in support of clinical trials in personalized medicine.

Nasser S, Kurdolgu AA, Izatt T, Aldrich J, Russell ML, Christoforides A, Tembe W, Keifer JA, Corneveaux JJ, Byron SA, Forman KM, Zuccaro C, Keats JJ, Lorusso PM, Carpten JD, Trent JM, Craig DW.

Pac Symp Biocomput. 2015:56-67.

11.

Protective variant for hippocampal atrophy identified by whole exome sequencing.

Nho K, Kim S, Risacher SL, Shen L, Corneveaux JJ, Swaminathan S, Lin H, Ramanan VK, Liu Y, Foroud TM, Inlow MH, Siniard AL, Reiman RA, Aisen PS, Petersen RC, Green RC, Jack CR Jr, Weiner MW, Baldwin CT, Lunetta KL, Farrer LA; MIRAGE (Multi-Institutional Research on Alzheimer Genetic Epidemiology) 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.

Ann Neurol. 2015 Mar;77(3):547-52. doi: 10.1002/ana.24349. Epub 2015 Feb 14.

12.

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

Szelinger S, Malenica I, Corneveaux JJ, Siniard AL, Kurdoglu AA, Ramsey KM, Schrauwen I, Trent JM, Narayanan V, Huentelman MJ, Craig DW.

PLoS One. 2014 Dec 12;9(12):e113036. doi: 10.1371/journal.pone.0113036. eCollection 2014.

13.

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

Schrauwen I, Barber RM, Schatzberg SJ, Siniard AL, Corneveaux JJ, Porter BF, Vernau KM, Keesler RI, Matiasek K, Flegel T, Miller AD, Southard T, Mariani CL, Johnson GC, Huentelman MJ.

PLoS One. 2014 Nov 13;9(11):e112755. doi: 10.1371/journal.pone.0112755. eCollection 2014.

14.

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman H, Buxbaum JD, Kramer P, Dickson DW, Farrer LA, Frosch MP, Ghetti B, Haines JL, Hyman BT, Kukull WA, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Reiman EM; Alzheimer's Disease Genetics Consortium (ADGC), Schellenberg GD, Montine TJ.

PLoS Genet. 2014 Sep 4;10(9):e1004606. doi: 10.1371/journal.pgen.1004606. eCollection 2014 Sep. Erratum in: PLoS Genet. 2014 Nov;10(11):e1004867.

15.

Transcriptomic analysis of tail regeneration in the lizard Anolis carolinensis reveals activation of conserved vertebrate developmental and repair mechanisms.

Hutchins ED, Markov GJ, Eckalbar WL, George RM, King JM, Tokuyama MA, Geiger LA, Emmert N, Ammar MJ, Allen AN, Siniard AL, Corneveaux JJ, Fisher RE, Wade J, DeNardo DF, Rawls JA, Huentelman MJ, Wilson-Rawls J, Kusumi K.

PLoS One. 2014 Aug 20;9(8):e105004. doi: 10.1371/journal.pone.0105004. eCollection 2014.

16.

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. 2015 Jan;23(1):110-5. doi: 10.1038/ejhg.2014.56. Epub 2014 Jun 18.

17.

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.

18.

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.

19.

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.

20.

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.

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