Medical & Molecular Genetics

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2017

Renal tubular cell-derived extracellular vesicles accelerate the recovery of established renal ischemia reperfusion injury

Dominguez, J., Liu, Y., Gao, H., Dominguez, J. M., Xie, D. & Kelly, K., Dec 1 2017, In : Journal of the American Society of Nephrology. 28, 12, p. 3533-3544 12 p.

Research output: Contribution to journalArticle

24 Scopus citations

RGRNA: prediction of RNA secondary structure based on replacement and growth of stems

Li, J., Xu, C., Liang, H., Cong, W., Wang, Y., Luan, K. & Liu, Y., Sep 10 2017, In : Computer Methods in Biomechanics and Biomedical Engineering. 20, 12, p. 1261-1272 12 p.

Research output: Contribution to journalArticle

Roles of alternative splicing in modulating transcriptional regulation

Li, J., Wang, Y., Rao, X., Wang, Y., Feng, W., Liang, H. & Liu, Y., Oct 3 2017, In : BMC Systems Biology. 11, 89.

Research output: Contribution to journalArticle

6 Scopus citations

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

International FTD-Genomics Consortium (IFGC), May 1 2017, In : Acta Neuropathologica. 133, 5, p. 825-837 13 p.

Research output: Contribution to journalArticle

31 Scopus citations

Signet-ring cell lymphoma: clinicopathologic, immunohistochemical, and fluorescence in situ hybridization studies of 7 cases

Zhang, S., Sun, J., Fang, Y., Nassiri, M., Liu, L., Zhou, J., Stohler, R., Choi, H. & Vance, G. H., Feb 1 2017, In : Annals of Diagnostic Pathology. 26, p. 38-42 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Sinus pericranii in achondroplasia: A case report and review of the literature

Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S. R., Smith, J. L. & Weaver, D. D., Jan 1 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

System modeling reveals the molecular mechanisms of HSC cell cycle alteration mediated by Maff and Egr3 under leukemia

Li, R., Wang, Y., Cheng, H., Liu, G., Cheng, T., Liu, Y. & Liu, L., Oct 3 2017, In : BMC Systems Biology. 11, 91.

Research output: Contribution to journalArticle

4 Scopus citations

Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer's disease

Alzheimer's Disease Neuroimaging Initiative (ADNI), Dec 2017, In : Neurobiology of Aging. 60, p. 92-103 12 p.

Research output: Contribution to journalArticle

20 Scopus citations
1 Scopus citations
12 Scopus citations

The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression

Hum, J. M., Clinkenbeard, E. L., Ip, C., Cass, T. A., Allen, M. & White, K. E., Jun 1 2017, In : Bone Reports. 6, p. 38-43 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

The Systemic Synuclein Sampling Study: Toward a biomarker for Parkinson's disease

Visanji, N. P., Mollenhauer, B., Beach, T. G., Adler, C. H., Coffey, C. S., Kopil, C. M., Dave, K. D., Foroud, T., Chahine, L. & Jennings, D., Apr 1 2017, In : Biomarkers in Medicine. 11, 4, p. 359-368 10 p.

Research output: Contribution to journalArticle

24 Scopus citations

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Alzheimer's Disease Genetics Consortium, Jul 2017, In : Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

Research output: Contribution to journalArticle

44 Scopus citations

TREM2 deficiency exacerbates tau pathology through dysregulated kinase signaling in a mouse model of tauopathy

Bemiller, S. M., McCray, T. J., Allan, K., Formica, S. V., Xu, G., Wilson, G., Kokiko-Cochran, O. N., Crish, S. D., Lasagna-Reeves, C. A., Ransohoff, R. M., Landreth, G. E. & Lamb, B. T., Oct 16 2017, In : Molecular Neurodegeneration. 12, 1, 74.

Research output: Contribution to journalArticle

53 Scopus citations

Triggering Receptor Expressed on Myeloid Cells 2 Deficiency Alters Acute Macrophage Distribution and Improves Recovery after Traumatic Brain Injury

Saber, M., Kokiko-Cochran, O., Puntambekar, S. S., Lathia, J. D. & Lamb, B. T., Jan 15 2017, In : Journal of neurotrauma. 34, 2, p. 423-435 13 p.

Research output: Contribution to journalArticle

34 Scopus citations

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

Alzheimer's Disease Genetics Consortium, Feb 1 2017, In : Alzheimer's and Dementia. 13, 2, p. 119-129 11 p.

Research output: Contribution to journalArticle

22 Scopus citations

Uncovering direct and indirect molecular determinants of chromatin loops using a computational integrative approach

Mourad, R., Li, L. & Cuvier, O., May 2017, In : PLoS Computational Biology. 13, 5, e1005538.

Research output: Contribution to journalArticle

3 Scopus citations

Use of Precision Medicine Molecular Profiling of Baseline Tumor Specimen May Not Benefit Outcomes in Children With Relapsed or Refractory Pediatric Sarcomas

Carter, J., Cheng, L., Zucker, J., Marshall, M., Pollok, K., Murray, M., Li, L. & Renbarger, J., Mar 1 2017, In : Clinical Pharmacology and Therapeutics. 101, 3, p. 328-330 3 p.

Research output: Contribution to journalArticle

Using machine learning algorithms to identify genes essential for cell survival

Philips, S., Wu, H. Y. & Li, L., Oct 3 2017, In : BMC bioinformatics. 18, 397.

Research output: Contribution to journalArticle

3 Scopus citations

Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders

Celestino-Soper, P. B. S., Gao, H., Lynnes, T. C., Lin, H., Liu, Y., Spoonamore, K. G., Chen, P. S. & Vatta, M., Mar 15 2017, In : Frontiers in Cardiovascular Medicine. 4, 11.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations
3 Scopus citations

Whole genome expression analysis in a mouse model of tauopathy identifies MECP2 as a possible regulator of tau pathology

Maphis, N. M., Jiang, S., Binder, J., Wright, C., Gopalan, B., Lamb, B. T. & Bhaskar, K., Mar 17 2017, In : Frontiers in Molecular Neuroscience. 10, 69.

Research output: Contribution to journalArticle

6 Scopus citations

Yeast interfering RNA larvicides targeting neural genes induce high rates of Anopheles larval mortality

Mysore, K., Hapairai, L. K., Sun, L., Harper, E. I., Chen, Y., Eggleson, K. K., Realey, J. S., Scheel, N. D., Severson, D. W., Wei, N. & Duman-Scheel, M., Nov 13 2017, In : Malaria Journal. 16, 1, 461.

Research output: Contribution to journalArticle

16 Scopus citations
2016

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

5 Scopus citations
11 Scopus citations

A centrosome clustering protein, KIFC1, predicts aggressive disease course in serous ovarian adenocarcinomas

Mittal, K., Choi, D. H., Klimov, S., Pawar, S., Kaur, R., Mitra, A. K., Gupta, M. V., Sams, R., Cantuaria, G., Rida, P. C. G. & Aneja, R., Mar 18 2016, In : Journal of Ovarian Research. 9, 1, 224.

Research output: Contribution to journalArticle

22 Scopus citations

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

Lah, M., Niranjan, T., Srikanth, S., Holloway, L., Schwartz, C. E., Wang, T. & Weaver, D. D., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 881-890 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Advancing Systems Biology in the International Conference on Intelligent Biology and Medicine (ICIBM) 2015

Zhao, Z., Liu, Y., Huang, Y., Huang, K. & Ruan, J., Aug 26 2016, In : BMC Systems Biology. 10, 61.

Research output: Contribution to journalArticle

A genome-wide association study of bipolar disorder with comorbid eating disorder replicates the SOX2-OT region

Bipolar Genome Study (BiGS), Jan 1 2016, In : Journal of Affective Disorders. 189, p. 141-149 9 p., 7712.

Research output: Contribution to journalArticle

24 Scopus citations

Altered mRNA splicing in SMN-depleted motor neuron-like cells

Custer, S. K., Gilson, T. D., Li, H., Todd, A. G., Astroski, J. W., Lin, H., Liu, Y. & Androphy, E. J., Oct 2016, In : PLoS ONE. 11, 10, e0163954.

Research output: Contribution to journalArticle

8 Scopus citations

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In : PloS one. 11, 2, e0148717.

Research output: Contribution to journalArticle

33 Scopus citations

A multivariate finite mixture latent trajectory model with application to dementia studies

Lai, D., Xu, H., Koller, D., Foroud, T. & Gao, S., Feb 17 2016, (Accepted/In press) In : Journal of Applied Statistics. p. 1-21 21 p.

Research output: Contribution to journalArticle

3 Scopus citations

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A. & 332 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., Lyketsos, C. G., Mack, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Morris, J. C., Mukherjee, S., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Partch, A., Paulson, H. L., Perry, W., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reisch, J. S., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Wu, C. K., Yu, C. E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In : Molecular Psychiatry. 21, 1, p. 108-117 10 p.

Research output: Contribution to journalArticle

87 Scopus citations

Assessment of the genetic variance of late-onset Alzheimer's disease

Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In : Neurobiology of Aging. 41, p. 200.e13-200.e20

Research output: Contribution to journalArticle

Open Access
24 Scopus citations

Association between anticholinergic medication use and cognition, brain metabolism, and brain atrophy in cognitively normal older adults

Alzheimer's Disease Neuroimaging Initiative, Jun 2016, In : JAMA Neurology. 73, 6, p. 721-732 12 p.

Research output: Contribution to journalArticle

103 Scopus citations

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Schwantes-An, T. H., Zhang, J., Chen, L. S., Hartz, S. M., Culverhouse, R. C., Chen, X., Coon, H., Frank, J., Kamens, H. M., Konte, B., Kovanen, L., Latvala, A., Legrand, L. N., Maher, B. S., Melroy, W. E., Nelson, E. C., Reid, M. W., Robinson, J. D., Shen, P. H., Yang, B. Z. & 90 others, Andrews, J. A., Aveyard, P., Beltcheva, O., Brown, S. A., Cannon, D. S., Cichon, S., Corley, R. P., Dahmen, N., Degenhardt, L., Foroud, T., Gaebel, W., Giegling, I., Glatt, S. J., Grucza, R. A., Hardin, J., Hartmann, A. M., Heath, A. C., Herms, S., Hodgkinson, C. A., Hoffmann, P., Hops, H., Huizinga, D., Ising, M., Johnson, E. O., Johnstone, E., Kaneva, R. P., Kendler, K. S., Kiefer, F., Kranzler, H. R., Krauter, K. S., Levran, O., Lucae, S., Lynskey, M. T., Maier, W., Mann, K., Martin, N. G., Mattheisen, M., Montgomery, G. W., Müller-Myhsok, B., Murphy, M. F., Neale, M. C., Nikolov, M. A., Nishita, D., Nöthen, M. M., Nurnberger, J., Partonen, T., Pergadia, M. L., Reynolds, M., Ridinger, M., Rose, R. J., Rouvinen-Lagerström, N., Scherbaum, N., Schmäl, C., Soyka, M., Stallings, M. C., Steffens, M., Treutlein, J., Tsuang, M., Wall, T. L., Wodarz, N., Yuferov, V., Zill, P., Bergen, A. W., Chen, J., Cinciripini, P. M., Edenberg, H. J., Ehringer, M. A., Ferrell, R. E., Gelernter, J., Goldman, D., Hewitt, J. K., Hopfer, C. J., Iacono, W. G., Kaprio, J., Kreek, M. J., Kremensky, I. M., Madden, P. A. F., McGue, M., Munafò, M. R., Philibert, R. A., Rietschel, M., Roy, A., Rujescu, D., Saarikoski, S. T., Swan, G. E., Todorov, A. A., Vanyukov, M. M., Weiss, R. B., Bierut, L. J. & Saccone, N. L., Mar 1 2016, In : Behavior Genetics. 46, 2, p. 151-169 19 p.

Research output: Contribution to journalArticle

51 Scopus citations

A study of alterations in DNA epigenetic modifications (5mC and 5hmC) and gene expression influenced by simulated microgravity in human lymphoblastoid cells

Chowdhury, B., Seetharam, A., Wang, Z., Liu, Y., Lossie, A. C., Thimmapuram, J. & Irudayaraj, J., Jan 1 2016, In : PloS one. 11, 1, e0147514.

Research output: Contribution to journalArticle

17 Scopus citations

Cerebral perfusion and gray matter changes associated with chemotherapy-induced peripheral neuropathy

Nudelman, K. N. H., McDonald, B. C., Wang, Y., Smith, D. J., West, J. D., O'Neill, D. P., Zanville, N. R., Champion, V. L., Schneider, B. P. & Saykin, A. J., Mar 1 2016, In : Journal of Clinical Oncology. 34, 7, p. 677-683 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Charcot-Marie-Tooth gene, SBF2, associated with taxaneinduced peripheral neuropathy in African Americans

Schneider, B. P., Lai, D., Shen, F., Jiang, G., Radovich, M., Li, L., Gardner, L., Miller, K. D., O'Neill, A., Sparano, J. A., Xue, G., Foroud, T. & Sledge, G. W., Jan 1 2016, In : Oncotarget. 7, 50, p. 82244-82253 10 p.

Research output: Contribution to journalArticle

16 Scopus citations

Chemotherapy-related cachexia is associated with mitochondrial depletion and the activation of ERK1/2 and p38 MAPKs

Barreto, R., Waning, D. L., Gao, H., Liu, Y., Zimmers, T. A. & Bonetto, A., Jan 1 2016, In : Oncotarget. 7, 28, p. 43442-43460 19 p.

Research output: Contribution to journalArticle

50 Scopus citations

Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival

Redmann, V., Lamb, C. A., Hwang, S., Orchard, R. C., Kim, S., Razi, M., Milam, A., Park, S., Yokoyama, C. C., Kambal, A., Kreamalmeyer, D., Bosch, M. K., Xiao, M., Green, K., Kim, J., Pruett-Miller, S. M., Ornitz, D. M., Allen, P. M., Beatty, W. L., Schmidt, R. E. & 3 others, Diantonio, A., Tooze, S. A. & Virgin, H. W., Mar 18 2016, In : Scientific reports. 6, 23326.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trials

The Huntington Study Group PHAROS Investigators, Jan 2016, In : JAMA Neurology. 73, 1, p. 102-110 9 p.

Research output: Contribution to journalArticle

Open Access
23 Scopus citations

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

Park, J. Y., Virts, E. L., Jankowska, A., Wiek, C., Othman, M., Chakraborty, S. C., Vance, G. H., Alkuraya, F. S., Hanenberg, H. & Andreassen, P. R., Oct 1 2016, In : Journal of Medical Genetics. 53, 10, p. 672-680 9 p.

Research output: Contribution to journalArticle

49 Scopus citations

Comprehensive comparison of molecular portraits between cell lines and tumors in breast cancer

Jiang, G., Zhang, S., Yazdanparast, A., Li, M., Pawar, A. V., Liu, Y., Inavolu, S. M. & Cheng, L., Aug 22 2016, In : BMC genomics. 17, 525.

Research output: Contribution to journalArticle

48 Scopus citations

Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia

Clinkenbeard, E. L., Cass, T. A., Ni, P., Hum, J. M., Bellido, T., Allen, M. R. & White, K. E., Jun 1 2016, In : Journal of Bone and Mineral Research. 31, 6, p. 1247-1257 11 p.

Research output: Contribution to journalArticle

27 Scopus citations

Correction: Evaluation of the genetic basis of familial aggregation of pacemaker implantation by a large next generation sequencing panel

Celestino-Soper, P. B. S., Doytchinova, A., Steiner, H. A., Uradu, A., Lynnes, T. C., Groh, W. J., Miller, J. M., Lin, H., Gao, H., Wang, Z., Liu, Y., Chen, P. S. & Vatta, M., Jan 1 2016, In : PLoS One. 11, 1, e0147455.

Research output: Contribution to journalArticle

Differences in vector-genome processing and illegitimate integration of non-integrating lentiviral vectors

Shaw, A. M., Joseph, G. L., Jasti, A. C., Sastry-Dent, L., Witting, S. & Cornetta, K., Oct 20 2016, (Accepted/In press) In : Gene Therapy.

Research output: Contribution to journalArticle

3 Scopus citations

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

Trinh, J., Gustavsson, E. K., Vilariño-Güell, C., Bortnick, S., Latourelle, J., McKenzie, M. B., Tu, C. S., Nosova, E., Khinda, J., Milnerwood, A., Lesage, S., Brice, A., Tazir, M., Aasly, J. O., Parkkinen, L., Haytural, H., Foroud, T., Myers, R. H., Sassi, S. B., Hentati, E. & 5 others, Nabli, F., Farhat, E., Amouri, R., Hentati, F. & Farrer, M. J., Nov 1 2016, In : The Lancet Neurology. 15, 12, p. 1248-1256 9 p.

Research output: Contribution to journalArticle

32 Scopus citations

Downregulation of Organic Anion Transporting Polypeptide (OATP) 1B1 Transport Function by Lysosomotropic Drug Chloroquine: Implication in OATP-Mediated Drug-Drug Interactions

Alam, K., Pahwa, S., Wang, X., Zhang, P., Ding, K., Abuznait, A. H., Li, L. & Yue, W., Mar 7 2016, In : Molecular Pharmaceutics. 13, 3, p. 839-851 13 p.

Research output: Contribution to journalArticle

13 Scopus citations

Early role of vascular dysregulation on late-onset Alzheimer's disease based on multifactorial data-driven analysis

The Alzheimer's Disease Neuroimaging Initiative, Jun 21 2016, In : Nature communications. 7, 11934.

Research output: Contribution to journalArticle

275 Scopus citations