Medical & Molecular Genetics

Publications

2016

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

28 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

1 Scopus citations

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

33 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

14 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

291 Scopus citations

Erratum: Quantitative high throughput screening using a primary human three-dimensional organotypic culture predicts in vivo efficacy (Nature Communications (2015) 6:6220 doi: 10.1038/ncomms7220)

Kenny, H. A., Lal-Nag, M., White, E. A., Shen, M., Chiang, C. Y., Mitra, A. K., Zhang, Y., Curtis, M., Schryver, E. M., Bettis, S., Jadhav, A., Boxer, M. B., Li, Z., Ferrer, M. & Lengyel, E., Feb 3 2016, In : Nature communications. 7, 10649.

Research output: Contribution to journalComment/debate

Erratum to: Extracting drug-enzyme relation from literature as evidence for drug drug interaction

Zhang, Y., Wu, H. Y., Du, J., Xu, J., Wang, J., Tao, C., Li, L. & Xu, H., 2016, In : Journal of Animal Science and Biotechnology. 7, 1, 2.

Research output: Contribution to journalComment/debate

ESR1 and PGR polymorphisms are associated with estrogen and progesterone receptor expression in breast tumors

Hertz, D. L., Henry, N. L., Kidwell, K. M., Thomas, D., Goddard, A., Azzouz, F., Speth, K., Li, L., Banerjee, M., Thibert, J. N., Kleer, C. G., Stearns, V., Hayes, D. F., Skaar, T. C. & Rae, J. M., Sep 2016, In : Physiological Genomics. 48, 9, p. 688-698 11 p.

Research output: Contribution to journalArticle

1 Scopus citations
20 Scopus citations

Excessive Osteocytic Fgf23 Secretion Contributes to Pyrophosphate Accumulation and Mineralization Defect in Hyp Mice

Murali, S. K., Andrukhova, O., Clinkenbeard, E. L., White, K. E. & Erben, R. G., Apr 1 2016, In : PLoS Biology. 14, 4, e1002427.

Research output: Contribution to journalArticle

49 Scopus citations

Extracting drug-enzyme relation from literature as evidence for drug drug interaction

Zhang, Y., Wu, H. Y., Du, J., Xu, J., Wang, J., Tao, C., Li, L. & Xu, H., Mar 7 2016, In : Journal of Biomedical Semantics. 7, 1, 11.

Research output: Contribution to journalArticle

4 Scopus citations

Functional characterization of a panel of high-grade serous ovarian cancer cell lines as representative experimental models of the disease

Haley, J., Tomar, S., Pulliam, N., Xiong, S., Perkins, S. M., Karpf, A. R., Mitra, S., Nephew, K. P. & Mitra, A. K., May 31 2016, In : Oncotarget. 7, 22, p. 32810-32820 11 p.

Research output: Contribution to journalArticle

17 Scopus citations

Garcinol inhibits GCN5-mediated lysine acetyltransferase activity and prevents replication of the parasite Toxoplasma gondii

Jeffers, V., Gao, H., Checkley, L. A., Liu, Y., Ferdig, M. T. & Sullivan, W. J., Apr 2016, In : Antimicrobial Agents and Chemotherapy. 60, 4, p. 2164-2170 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Gene-by-diet interactions affect serum 1,25-dihydroxyvitamin D levels in male BXD recombinant inbred mice

Fleet, J. C., Replogle, R. A., Reyes-Fernandez, P., Wang, L., Zhang, M., Clinkenbeard, E. L. & White, K. E., Feb 2016, In : Endocrinology. 157, 2, p. 470-481 12 p.

Research output: Contribution to journalArticle

2 Scopus citations
20 Scopus citations

Gene targets of mouse miR-709: Regulation of distinct pools

Surendran, S., Jideonwo, V. N., Merchun, C., Ahn, M., Murray, J., Ryan, J., Dunn, K. W., Kota, J. & Morral, N., Jan 8 2016, In : Scientific reports. 6, 18958.

Research output: Contribution to journalArticle

2 Scopus citations

Genetic architecture of age-related cognitive decline in African Americans

Raj, T., Chibnik, L. B., McCabe, C., Wong, A., Replogle, J. M., Yu, L., Gao, S., Unverzagt, F. W., Stranger, B., Murrell, J., Barnes, L., Hendrie, H. C., Foroud, T., Krichevsky, A., Bennett, D. A., Hall, K. S., Evans, D. A. & De Jager, P. L., 2016, In : Neurology: Genetics. 3, 1, e125.

Research output: Contribution to journalArticle

10 Scopus citations

Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept

Psychosis Endophenotypes International Consortium, Feb 23 2016, In : Nature Neuroscience. 19, 3, p. 420-431 12 p.

Research output: Contribution to journalArticle

116 Scopus citations

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

Hou, L., Bergen, S. E., Akula, N., Song, J., Hultman, C. M., Landén, M., Adli, M., Alda, M., Ardau, R., Arias, B., Aubry, J. M., Backlund, L., Badner, J. A., Barrett, T. B., Bauer, M., Baune, B. T., Bellivier, F., Benabarre, A., Bengesser, S., Berrettini, W. H. & 119 others, Bhattacharjee, A. K., Biernacka, J. M., Birner, A., Bloss, C. S., Brichant-Petitjean, C., Bui, E. T., Byerley, W., Cervantes, P., Chillotti, C., Cichon, S., Colom, F., Coryell, W., Craig, D. W., Cruceanu, C., Czerski, P. M., Davis, T., Dayer, A., Degenhardt, F., Del Zompo, M., DePaulo, J. R., Edenberg, H. J., Étain, B., Falkai, P., Foroud, T., Forstner, A. J., Frisén, L., Frye, M. A., Fullerton, J. M., Gard, S., Garnham, J. S., Gershon, E. S., Goes, F. S., Greenwood, T. A., Grigoroiu-Serbanescu, M., Hauser, J., Heilbronner, U., Heilmann-Heimbach, S., Herms, S., Hipolito, M., Hitturlingappa, S., Hoffmann, P., Hofmann, A., Jamain, S., Jiménez, E., Kahn, J. P., Kassem, L., Kelsoe, J. R., Kittel-Schneider, S., Kliwicki, S., Koller, D. L., König, B., Lackner, N., Laje, G., Lang, M., Lavebratt, C., Lawson, W. B., Leboyer, M., Leckband, S. G., Liu, C., Maaser, A., Mahon, P. B., Maier, W., Maj, M., Manchia, M., Martinsson, L., McCarthy, M. J., McElroy, S. L., McInnis, M. G., McKinney, R., Mitchell, P. B., Mitjans, M., Mondimore, F. M., Monteleone, P., Mühleisen, T. W., Nievergelt, C. M., Nöthen, M. M., Novák, T., Nurnberger, J. I., Nwulia, E. A., Ösby, U., Pfennig, A., Potash, J. B., Propping, P., Reif, A., Reininghaus, E., Rice, J., Rietschel, M., Rouleau, G. A., Rybakowski, J. K., Schalling, M., Scheftner, W. A., Schofield, P. R., Schork, N. J., Schulze, T. G., Schumacher, J., Schweizer, B. W., Severino, G., Shekhtman, T., Shilling, P. D., Simhandl, C., Slaney, C. M., Smith, E. N., Squassina, A., Stamm, T., Stopkova, P., Streit, F., Strohmaier, J., Szelinger, S., Tighe, S. K., Tortorella, A., Turecki, G., Vieta, E., Volkert, J., Witt, S. H., Wright, A., Zandi, P. P., Zhang, P., Zollner, S. & McMahon, F. J., 2016, In : Human molecular genetics. 25, 15, p. 3383-3394 12 p.

Research output: Contribution to journalArticle

68 Scopus citations

Genome-wide association study of serum iron phenotypes in premenopausal women of European descent

Koller, D. L., Imel, E. A., Lai, D., Padgett, L. R., Acton, D., Gray, A., Peacock, M., Econs, M. J. & Foroud, T., Mar 1 2016, In : Blood Cells, Molecules, and Diseases. 57, p. 50-53 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

Kunkle, B. W., Jaworski, J., Barral, S., Vardarajan, B., Beecham, G. W., Martin, E. R., Cantwell, L. S., Partch, A., Bird, T. D., Raskind, W. H., Destefano, A. L., Carney, R. M., Cuccaro, M., Vance, J. M., Farrer, L. A., Goate, A. M., Foroud, T., Mayeux, R. P., Schellenberg, G. D., Haines, J. L. & 1 others, Pericak-Vance, M. A., Jan 1 2016, In : Alzheimer's and Dementia. 12, 1, p. 2-10 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures

Kapoor, M., Chou, Y. L., Edenberg, H. J., Foroud, T., Martin, N. G., Madden, P. A. F., Wang, J. C., Bertelsen, S., Wetherill, L., Brooks, A., Chan, G., Hesselbrock, V., Kuperman, S., Medland, S. E., Montgomery, G., Tischfield, J., Whitfield, J. B., Bierut, L. J., Heath, A. C., Bucholz, K. K. & 2 others, Goate, A. M. & Agrawal, A., 2016, In : Translational psychiatry. 6, 3, e761.

Research output: Contribution to journalArticle

10 Scopus citations

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

Alzheimer Disease Genetics Consortium, Mar 1 2016, In : Alzheimer's and Dementia. 12, 3, p. 233-243 11 p.

Research output: Contribution to journalArticle

11 Scopus citations

Haemophilus ducreyi seeks alternative carbon sources and adapts to nutrient stress and anaerobiosis during experimental infection of human volunteers

Gangaiah, D., Zhang, X., Baker, B., Fortney, K. R., Gao, H., Holley, C. L., Munson, R. S., Liu, Y. & Spinola, S. M., May 1 2016, In : Infection and immunity. 84, 5, p. 1514-1525 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD)

Carlozzi, N. E., Schilling, S. G., Lai, J. S., Paulsen, J. S., Hahn, E. A., Perlmutter, J. S., Ross, C. A., Downing, N. R., Kratz, A. L., McCormack, M. K., Nance, M. A., Quaid, K. A., Stout, J. C., Gershon, R. C., Ready, R. E., Miner, J. A., Barton, S. K., Perlman, S. L., Rao, S. M., Frank, S. & 6 others, Shoulson, I., Marin, H., Geschwind, M. D., Dayalu, P., Goodnight, S. M. & Cella, D., Oct 1 2016, In : Quality of Life Research. 25, 10, p. 2441-2455 15 p.

Research output: Contribution to journalArticle

25 Scopus citations

High Resolution Genomic Scans Reveal Genetic Architecture Controlling Alcohol Preference in Bidirectionally Selected Rat Model

Lo, C. L., Lossie, A. C., Liang, T., Liu, Y., Xuei, X., Lumeng, L., Zhou, F. C. & Muir, W. M., Aug 2016, In : PLoS Genetics. 12, 8, e1006178.

Research output: Contribution to journalArticle

12 Scopus citations

High-throughput cis-regulatory element discovery in the vector mosquito Aedes aegypti

Behura, S. K., Sarro, J., Li, P., Mysore, K., Severson, D. W., Emrich, S. J. & Duman-Scheel, M., May 10 2016, In : BMC genomics. 17, 1, 341.

Research output: Contribution to journalArticle

9 Scopus citations

Hsp90 and PKM2 drive the expression of aromatase in Li-Fraumeni syndrome breast adipose stromal cells

Subbaramaiah, K., Brown, K. A., Zahid, H., Balmus, G., Weiss, R. S., Herbert, B. S. & Dannenberg, A. J., Jul 29 2016, In : Journal of Biological Chemistry. 291, 31, p. 16011-16023 13 p.

Research output: Contribution to journalArticle

5 Scopus citations

Identification of rifampin-regulated functional modules and related microRNAs in human hepatocytes based on the protein interaction network

Li, J., Wang, Y., Wang, L., Dai, X., Cong, W., Feng, W., Xu, C., Deng, Y., Wang, Y., Skaar, T. C., Liang, H. & Liu, Y., Aug 22 2016, In : BMC genomics. 17, 517.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of TMEM230 mutations in familial Parkinson's disease

Deng, H. X., Shi, Y., Yang, Y., Ahmeti, K. B., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., Corbett, N. J., Kim, M. J., Deng, H., Tang, B., Yang, Z., Xu, Y., Chan, P., Huang, B., Gao, X. P., Song, Z. & 14 others, Liu, Z., Fecto, F., Siddique, N., Foroud, T., Jankovic, J., Ghetti, B., Nicholson, D. A., Krainc, D., Melen, O., Vance, J. M., Pericak-Vance, M. A., Ma, Y. C., Rajput, A. H. & Siddique, T., Jul 1 2016, In : Nature genetics. 48, 7, p. 733-739 7 p.

Research output: Contribution to journalArticle

93 Scopus citations
1 Scopus citations

Improving alignment accuracy on homopolymer regions for semiconductor-based sequencing technologies

Feng, W., Zhao, S., Xue, D., Song, F., Li, Z., Chen, D., He, B., Hao, Y., Wang, Y. & Liu, Y., Aug 22 2016, In : BMC genomics. 17, 521.

Research output: Contribution to journalArticle

7 Scopus citations

Inflammatory profile in LRRK2-associated prodromal and clinical PD

Brockmann, K., Apel, A., Schulte, C., Schneiderhan-Marra, N., Pont-Sunyer, C., Vilas, D., Ruiz-Martinez, J., Langkamp, M., Corvol, J. C., Cormier, F., Knorpp, T., Joos, T. O., Gasser, T., Schüle, B., Aasly, J. O., Foroud, T., Marti-Masso, J. F., Brice, A., Tolosa, E., Marras, C. & 2 others, Berg, D. & Maetzler, W., May 24 2016, In : Journal of Neuroinflammation. 13, 1, 122.

Research output: Contribution to journalArticle

18 Scopus citations

Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease

Nho, K., Horgusluoglu, E., Kim, S., Risacher, S. L., Kim, D., Foroud, T., Aisen, P. S., Petersen, R. C., Jack, C. R., Shaw, L. M., Trojanowski, J. Q., Weiner, M. W., Green, R. C., Toga, A. W. & Saykin, A. J., Aug 12 2016, In : BMC Medical Genomics. 9, 30.

Research output: Contribution to journalArticle

10 Scopus citations

Intelligent biology and medicine in 2015: Advancing interdisciplinary education, collaboration, and data science

Huang, K., Liu, Y., Huang, Y., Li, L., Cooper, L., Ruan, J. & Zhao, Z., Aug 22 2016, In : BMC genomics. 17, 524.

Research output: Contribution to journalArticle

7 Scopus citations

Interplay Between Inflammation and Epigenetic Changes in Cancer

Maiuri, A. R. & O'Hagan, H. M., Jan 1 2016, Molecular and Cellular Changes in the Cancer Cell, 2016. Pruitt, K. (ed.). Elsevier B.V., p. 69-117 49 p. (Progress in Molecular Biology and Translational Science; vol. 144).

Research output: Chapter in Book/Report/Conference proceedingChapter

12 Scopus citations

Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

Celestino-Soper, P. B. S., Simpson, E., Tumbleson Brink, D., Lynnes, T. C., Dlouhy, S., Vatta, M., Yeley, J., Brown, C. & Bai, S., Dec 20 2016, In : Scientific reports. 6, 38776.

Research output: Contribution to journalArticle

Knowledge gaps and research recommendations for essential tremor

Hopfner, F., Haubenberger, D., Galpern, W. R., Gwinn, K., Van't Veer, A., White, S., Bhatia, K., Adler, C. H., Eidelberg, D., Ondo, W., Stebbins, G. T., Tanner, C. M., Helmich, R. C., Lenz, F. A., Sillitoe, R. V., Vaillancourt, D., Vitek, J. L., Louis, E. D., Shill, H. A., Frosch, M. P. & 7 others, Foroud, T., Kuhlenbäumer, G., Singleton, A., Testa, C. M., Hallett, M., Elble, R. & Deuschl, G., Dec 1 2016, In : Parkinsonism and Related Disorders. 33, p. 27-35 9 p.

Research output: Contribution to journalReview article

23 Scopus citations

Leveraging syntactic and semantic graph kernels to extract pharmacokinetic drug drug interactions from biomedical literature

Zhang, Y., Wu, H. Y., Xu, J., Wang, J., Soysal, E., Li, L. & Xu, H., Aug 26 2016, In : BMC Systems Biology. 10, 67.

Research output: Contribution to journalArticle

10 Scopus citations

Lipopolysaccharide treatment induces genome-wide pre-mRNA splicing pattern changes in mouse bone marrow stromal stem cells

Zhou, A., Li, M., He, B., Feng, W., Huang, F., Xu, B., Dunker, A. K., Balch, C., Li, B., Liu, Y. & Wang, Y., Aug 22 2016, In : BMC genomics. 17, 509.

Research output: Contribution to journalArticle

3 Scopus citations

Mass graphs and their applications in top-down proteomics

Kou, Q., Wu, S., Tolić, N., Liu, Y., Paša-Tolić, L. & Liu, X., 2016, Algorithms in Bioinformatics - 16th International Workshop, WABI 2016, Proceedings. Springer Verlag, Vol. 9838. p. XII (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 9838).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

MicroRNAs in brain cholesterol metabolism and their implications for Alzheimer's disease

Yoon, H., Flores, L. F. & Kim, J., Dec 1 2016, In : Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids. 1861, 12, p. 2139-2147 9 p.

Research output: Contribution to journalArticle

12 Scopus citations

MiR-27a and miR-27b regulate autophagic clearance of damaged mitochondria by targeting PTEN-induced putative kinase 1 (PINK1)

Kim, J., Fiesel, F. C., Belmonte, K. C., Hudec, R., Wang, W. X., Kim, C., Nelson, P. T., Springer, W. & Kim, J., Jul 26 2016, In : Molecular Neurodegeneration. 11, 1, 55.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations

Mismatch repair proteins recruit DNA methyltransferase 1 to sites of oxidative DNA damage

Ding, N., Bonham, E. M., Hannon, B. E., Amick, T. R., Baylin, S. B. & O'Hagan, H. M., Jun 1 2016, In : Journal of Molecular Cell Biology. 8, 3, p. 244-254 11 p.

Research output: Contribution to journalArticle

26 Scopus citations

Modeling CNS development and disease

Weick, J. P., Meyer, J. S., Ladewig, J., Guo, W. & Liu, Y., 2016, In : Stem Cells International. 2016, 3241057.

Research output: Contribution to journalEditorial

Open Access

Molecular diagnosis of myotonic dystrophy

Chakraborty, S., Vatta, M., Bachinski, L. L., Krahe, R., Dlouhy, S. & Bai, S., 2016, In : Current Protocols in Human Genetics. 2016, p. 9.29.1-9.29.19

Research output: Contribution to journalArticle

3 Scopus citations

Monitoring potential drug interactions and reactions via network analysis of instagram user timelines

Correia, R. B., Li, L. & Rocha, L. M., 2016, In : Pacific Symposium on Biocomputing. p. 492-503 12 p.

Research output: Contribution to journalConference article

18 Scopus citations

New measures to capture end of life concerns in Huntington disease: Meaning and Purpose and Concern with Death and Dying from HDQLIFE (a patient-reported outcomes measurement system)

Carlozzi, N. E., Downing, N. R., McCormack, M. K., Schilling, S. G., Perlmutter, J. S., Hahn, E. A., Lai, J. S., Frank, S., Quaid, K. A., Paulsen, J. S., Cella, D., Goodnight, S. M., Miner, J. A. & Nance, M. A., Oct 1 2016, In : Quality of Life Research. 25, 10, p. 2403-2415 13 p.

Research output: Contribution to journalArticle

18 Scopus citations

NF-κB-HOTAIR axis links DNA damage response, chemoresistance and cellular senescence in ovarian cancer

Özeş, A. R., Miller, D. F., Özeş, O. N., Fang, F., Liu, Y., Matei, D., Huang, T. & Nephew, K. P., Oct 13 2016, In : Oncogene. 35, 41, p. 5350-5361 12 p.

Research output: Contribution to journalArticle

124 Scopus citations