Medical & Molecular Genetics

Publications

2015

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder

Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Feb 5 2015, In : American Journal of Human Genetics. 96, 2, p. 283-294 12 p.

Research output: Contribution to journalArticle

104 Scopus citations

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

Farlow, J. L., Lin, H., Sauerbeck, L., Lai, D., Koller, D. L., Pugh, E., Hetrick, K., Ling, H., Kleinloog, R., Van Der Vlies, P., Deelen, P., Swertz, M. A., Verweij, B. H., Regli, L., Rinkel, G. J. E., Ruigrok, Y. M., Doheny, K., Liu, Y., Foroud, T., Broderick, J. & 59 others, Woo, D., Kissela, B., Kleindorfer, D., Schneider, A., Zuccarello, M., Ringer, A., Deka, R., Brown, R. D., Huston, J., Mesissner, I., Wiebers, D., Qureshi, A. I., Rasmussen, P. A., Connolly, E. S., Sacco, R. L., Malkaff, M., Payner, T. D., Ferguson, G. G., Aldrich, E. F., Rouleau, G., Anderson, C. S., Mee, E. W., Hankey, G. J., Knuckey, N., Reilly, P. L., Laidlaw, J. D., D'Urso, P., Rosenfeld, J. V., Morgan, M. K., Dorsch, N., Besser, M., Batjer, H. H., Richard, M. T., Kassam, A., Steinberg, G. K., Johnston, S. C., Ko, N. U., Giannotta, S. L., Kassell, N. F., Worrall, B. B., Lui, K. C., Dumont, A., Tirschell, D. L., Kaufmann, A. M., Fisher, W. S., Aziz, K. M. A., Day, A. L., Du, R., Ogilvy, C., Lewis, S. B., Murphy, K. P., Radvany, M., Gandhi, D., Lisabeth, L., Pandey, A., Morgenstern, L., Derdeyn, C., Langefeld, C. & Bailey-Wilson, J., Mar 24 2015, In : PloS one. 10, 3, e0121104.

Research output: Contribution to journalArticle

21 Scopus citations

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease

Barral, S., Cheng, R., Reitz, C., Vardarajan, B., Lee, J., Kunkle, B., Beecham, G., Cantwell, L. S., Pericak-Vance, M. A., Farrer, L. A., Haines, J. L., Goate, A. M., Foroud, T., Boerwinkle, E., Schellenberg, G. D. & Mayeux, R., Dec 1 2015, In : Alzheimer's and Dementia. 11, 12, p. 1397-1406 10 p.

Research output: Contribution to journalArticle

14 Scopus citations

Microenvironment-induced downregulation of miR-193b drives ovarian cancer metastasis

Mitra, A. K., Chiang, C. Y., Tiwari, P., Tomar, S., Watters, K. M., Peter, M. E. & Lengyel, E., Nov 26 2015, In : Oncogene. 34, 48, p. 5923-5932 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

MicroRNAs as mediators and communicators between cancer cells and the tumor microenvironment

Kohlhapp, F. J., Mitra, A. K., Lengyel, E. & Peter, M. E., Nov 26 2015, In : Oncogene. 34, 48, p. 5857-5868 12 p.

Research output: Contribution to journalReview article

103 Scopus citations

MMBIRFinder: A Tool to Detect Microhomology-Mediated Break-Induced Replication

Segar, M. W., Sakofsky, C. J., Malkova, A. & Liu, Y., Jul 1 2015, In : IEEE/ACM Transactions on Computational Biology and Bioinformatics. 12, 4, p. 799-806 8 p., 6948337.

Research output: Contribution to journalArticle

4 Scopus citations

Multivariate clustering of progression profiles reveals different depression patterns in prodromal huntington disease

The PREDICT-HD Investigators and Coordinators of the Huntington Study Group, Nov 2015, In : Neuropsychology. 29, 6, p. 949-960 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Multivariate prediction of motor diagnosis in Huntington's disease: 12 years of PREDICT-HD

PREDICT-HD Investigators and Coordinators of the Huntington Study Group, Oct 2015, In : Movement Disorders. 30, 12, p. 1664-1672 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia

Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L. P., Oufadem, M., Kurihara, Y., Adameyko, I., Picard, A., Breton, S., Pierrot, S., Biosse-Duplan, M., Voisin, N., Masson, C., Bole-Feysot, C., Nitschké, P., Delrue, M. A., Lacombe, D., Guion-Almeida, M. L., Moura, P. P. & 13 others, Garib, D. G., Munnich, A., Ernfors, P., Hufnagel, R. B., Hopkin, R. J., Kurihara, H., Saal, H. M., Weaver, D. D., Katsanis, N., Lyonnet, S., Golzio, C., Clouthier, D. E. & Amiel, J., Apr 2 2015, In : American Journal of Human Genetics. 96, 4, p. 519-531 13 p.

Research output: Contribution to journalArticle

18 Scopus citations

New genetic loci link adipose and insulin biology to body fat distribution

ADIPOGen Consortium; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GEFOS Consortium; GENIE Consortium; GLGC; ICBP; International Endogene Consortium; LifeLines Cohort Study; MAGIC Investigators; MuTHER Consortium; PAGE Consortium; ReproGen Consortium, Feb 12 2015, In : Nature. 518, 7538, p. 187-196 10 p.

Research output: Contribution to journalArticle

582 Scopus citations

Nf-kB-dependent and -independent epigenetic modulation using the novel anti-cancer agent DMAPT

Nakshatri, H., Appaiah, H. N., Anjanappa, M., Gilley, D., Tanaka, H., Badve, S., Crooks, P. A., Mathews, W., Sweeney, C. & Bhat-Nakshatri, P., Jan 1 2015, In : Cell Death and Disease. 6, 1, e1608.

Research output: Contribution to journalArticle

24 Scopus citations

Novel recruitment strategy to enrich for lrrk2 mutation carriers

Foroud, T., Smith, D., Jackson, J., Verbrugge, J., Halter, C., Wetherill, L., Sims, K., Xin, W., Arnedo, V., Lasch, S. & Marek, K., Jan 1 2015, In : Molecular Genetics and Genomic Medicine. 3, 5, p. 404-412 9 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Van Deerlin, V. M., Hurtig, H. I., Mash, D. C., Beach, T. G., Troncoso, J. C., Pletnikova, O., Frosch, M. P., Ghetti, B., Foroud, T. M., Honig, L. S., Marder, K. & 12 others, Vonsattel, J. P., Goldman, S. M., Vinters, H. V., Ross, O. A., Wszolek, Z. K., Wang, L., Dykxhoorn, D. M., Pericak-Vance, M. A., Montine, T. J., Leverenz, J. B., Dawson, T. M. & Vance, J. M., Mar 10 2015, In : Neurology. 84, 10, p. 972-980 9 p.

Research output: Contribution to journalArticle

28 Scopus citations

Pathophysiological role of microRNA-29 in pancreatic cancer stroma

Kwon, J. J., Nabinger, S. C., Vega, Z., Sahu, S. S., Alluri, R. K., Abdul-Sater, Z., Yu, Z., Gore, J., Nalepa, G., Saxena, R., Korc, M. & Kota, J., Jun 22 2015, In : Scientific reports. 5, 11450.

Research output: Contribution to journalArticle

40 Scopus citations

Patterns and severity of vincristine-induced peripheral neuropathy in children with acute lymphoblastic leukemia

Lavoie Smith, E. M., Li, L., Chiang, C., Thomas, K., Hutchinson, R. J., Wells, E. M., Ho, R. H., Skiles, J., Chakraborty, A., Bridges, C. M. & Renbarger, J., Mar 1 2015, In : Journal of the Peripheral Nervous System. 20, 1, p. 37-46 10 p.

Research output: Contribution to journalArticle

64 Scopus citations

Peripheral macrophages not ADept at amyloid clearance

Jay, T., Lamb, B. & Landreth, G., Oct 19 2015, In : Journal of Experimental Medicine. 212, 11, 1 p.

Research output: Contribution to journalComment/debate

4 Scopus citations
21 Scopus citations

Predicting early brain metastases based on clinicopathological factors and gene expression analysis in advanced HER2-positive breast cancer patients

Duchnowska, R., Jassem, J., Goswami, C. P., Dundar, M., Gökmen-Polar, Y., Li, L., Woditschka, S., Biernat, W., Sosińska-Mielcarek, K., Czartoryska-Arłukowicz, B., Radecka, B., Tomasevic, Z., Stępniak, P., Wojdan, K., Sledge, G. W., Steeg, P. S. & Badve, S., Jan 1 2015, In : Journal of Neuro-Oncology. 122, 1, p. 205-216 12 p.

Research output: Contribution to journalArticle

19 Scopus citations

Prediction of Pre-microRNA Secondary Structure Based on Reverse Complementary Folding

Li, J., Xu, C., Wang, L., Liang, H., Feng, W., Cai, Z., Wang, Y., Cong, W. & Liu, Y., 2015, In : IFAC-PapersOnLine. 48, 28, p. 239-244 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Prefrontal cortex white matter tracts in prodromal Huntington disease

PREDICT-HD Investigators and Coordinators of the Huntington Study Group, Oct 1 2015, In : Human Brain Mapping. 36, 10, p. 3717-3732 16 p.

Research output: Contribution to journalArticle

31 Scopus citations

Protective variant for hippocampal atrophy identified by whole exome sequencing

Nho, K., Kim, S., Risacher, S. L., Shen, L., Corneveaux, J. J., Swaminathan, S., Lin, H., Ramanan, V. K., Liu, Y., Foroud, T. M., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K. L. & 14 others, Farrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B. C., Farlow, M. R., Ghetti, B., Huentelman, M. J. & Saykin, A. J., Mar 1 2015, In : Annals of neurology. 77, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

35 Scopus citations

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium & International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Feb 17 2015, In : Nature Neuroscience. 18, 2, p. 199-209 11 p.

Research output: Contribution to journalArticle

382 Scopus citations

Reactive microglia drive tau pathology and contribute to the spreading of pathological tau in the brain

Maphis, N., Xu, G., Kokiko-Cochran, O. N., Jiang, S., Cardona, A., Ransohoff, R. M., Lamb, B. T. & Bhaskar, K., Jun 1 2015, In : Brain. 138, 6, p. 1738-1755 18 p.

Research output: Contribution to journalArticle

161 Scopus citations

Renal C3 complement component: Feed forward to diabetic kidney disease

Kelly, K. J., Liu, Y., Zhang, J. & Dominguez, J. H., Mar 19 2015, In : American journal of nephrology. 41, 1, p. 48-56 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

Renal iron overload in rats with diabetic nephropathy

Dominguez, J. H., Liu, Y. & Kelly, K. J., 2015, In : Physiological reports. 3, 12, e12654.

Research output: Contribution to journalArticle

7 Scopus citations

Reply to E.A. Rakha et al

Wolff, A. C., Elizabeth, M., Hammond, H., Hicks, D. G., Allison, K. H., Bartlett, J. M. S., Bilous, M., Fitzgibbons, P., Hanna, W., Jenkins, R. B., Mangu, P. B., Paik, S., Perez, E. A., Press, M. F., Spears, P. A., Vance, G. H., Viale, G., Dowsett, M., McShane, L. M. & Hayes, D. F., Mar 20 2015, In : Journal of Clinical Oncology. 33, 11, p. 1302-1303 2 p.

Research output: Contribution to journalLetter

17 Scopus citations

Report of new haplotype for ABCC2 gene: Rs17222723 and rs8187718 in cis

Pratt, V. M., Beyer, B. N., Koller, D. L., Skaar, T. C., Flockhart, D. A., Levy, K. D. & Vance, G. H., Mar 1 2015, In : Journal of Molecular Diagnostics. 17, 2, p. 201-205 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: Evidence for lack of penetrance

Lee, B. H., Kasparis, C., Chen, B., Mei, H., Edelmann, L., Moss, C., Weaver, D. D. & Desnick, R. J., Nov 1 2015, In : Journal of Human Genetics. 60, 11, p. 717-722 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Simplified warfarin dose-response pharmacodynamic models

Kim, S., Gaweda, A. E., Wu, D., Li, L., Rai, S. N. & Brier, M. E., Feb 14 2015, In : Biomedical Engineering - Applications, Basis and Communications. 27, 1, 1550001.

Research output: Contribution to journalArticle

3 Scopus citations

siRNA-Mediated Silencing of doublesex during Female Development of the Dengue Vector Mosquito Aedes aegypti

Mysore, K., Sun, L., Tomchaney, M., Sullivan, G., Adams, H., Piscoya, A. S., Severson, D. W., Syed, Z. & Duman-Scheel, M., Nov 6 2015, In : PLoS neglected tropical diseases. 9, 11, e0004213.

Research output: Contribution to journalArticle

23 Scopus citations

Special issue on neurodegenerative diseases and their therapeutic approaches

Kim, J. & Mook-Jung, I., 2015, In : Experimental & molecular medicine. 47, p. e146

Research output: Contribution to journalEditorial

Open Access

Stranded whole transcriptome RNA-Seq for all RNA types

Miller, D. F. B., Yan, P. X., Fang, F., Buechlein, A., Ford, J. B., Tang, H., Huang, T. H., Burow, M. E., Liu, Y., Rusch, D. B. & Nephew, K. P., Jan 1 2015, In : Current Protocols in Human Genetics. 2015, p. 11.14.1-11.14.23

Research output: Contribution to journalArticle

5 Scopus citations

The Exosome Component Rrp6 Is Required for RNA Polymerase II Termination at Specific Targets of the Nrd1-Nab3 Pathway

Fox, M. J., Gao, H., Smith-Kinnaman, W. R., Liu, Y. & Mosley, A. L., Jan 1 2015, In : PLoS Genetics. 11, 2, p. 1-26 26 p., e1004999.

Research output: Contribution to journalArticle

34 Scopus citations

The potential of translational bioinformatics approaches for pharmacology research

Li, L., Oct 1 2015, In : British Journal of Clinical Pharmacology. 80, 4, p. 862-867 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

The Relationship Between Colonic Macrophages and MicroRNA-128 in the Pathogenesis of Slow Transit Constipation

Liu, W., Zhang, Q., Li, S., Li, L., Ding, Z., Qian, Q., Fan, L. & Jiang, C., Aug 23 2015, In : Digestive Diseases and Sciences. 60, 8, p. 2304-2315 12 p.

Research output: Contribution to journalArticle

8 Scopus citations
13 Scopus citations

The TGF-β Signaling Regulator PMEPA1 Suppresses Prostate Cancer Metastases to Bone

Fournier, P. G. J., Juárez, P., Jiang, G., Clines, G. A., Niewolna, M., Kim, H. S., Walton, H. W., Peng, X. H., Liu, Y., Mohammad, K. S., Wells, C. D., Chirgwin, J. M. & Guise, T. A., Jun 8 2015, In : Cancer Cell. 27, 6, p. 809-821 13 p.

Research output: Contribution to journalArticle

101 Scopus citations

TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models

Jay, T. R., Miller, C. M., Cheng, P. J., Graham, L. C., Bemiller, S., Broihier, M. L., Xu, G., Margevicius, D., Karlo, J. C., Sousa, G. L., Cotleur, A. C., Butovsky, O., Bekris, L., Staugaitis, S. M., Leverenz, J. B., Pimplikar, S. W., Landreth, G. E., Howell, G. R., Ransohoff, R. M. & Lamb, B. T., Mar 9 2015, In : Journal of Experimental Medicine. 212, 3, p. 287-295 9 p.

Research output: Contribution to journalArticle

297 Scopus citations

Understanding Transcription Factor Regulation by Integrating Gene Expression and DNase i Hypersensitive Sites

Wang, G., Wang, F., Huang, Q., Li, Y., Liu, Y. & Wang, Y., Jan 1 2015, In : BioMed research international. 2015, 757530.

Research output: Contribution to journalArticle

7 Scopus citations
2014

2014 Report on the milestones for the us national plan to address Alzheimer's disease

Fargo, K. N., Aisen, P., Albert, M., Au, R., Corrada, M. M., Dekosky, S., Drachman, D., Fillit, H., Gitlin, L., Haas, M., Herrup, K., Kawas, C., Khachaturian, A. S., Khachaturian, Z. S., Klunk, W., Knopman, D., Kukull, W. A., Lamb, B., Logsdon, R. G., Maruff, P. & 20 others, Mesulam, M., Mobley, W., Mohs, R., Morgan, D., Nixon, R. A., Paul, S., Petersen, R., Plassman, B., Potter, W., Reiman, E., Reisberg, B., Sano, M., Schindler, R., Schneider, L. S., Snyder, P. J., Sperling, R. A., Yaffe, K., Bain, L. J., Thies, W. H. & Carrillo, M. C., Oct 1 2014, In : Alzheimer's and Dementia. 10, 5, p. S430-S452

Research output: Contribution to journalArticle

43 Scopus citations

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

Nuytemans, K., Inchausti, V., Beecham, G. W., Wang, L., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. Y., Mash, D. C., Frosch, M. P., Foroud, T. M., Honig, L. S., Montine, T. J., Dawson, T. M., Martin, E. R., Scott, W. K. & Vance, J. M., May 2014, In : Movement Disorders. 29, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Roberts, J., Torres-Martinez, W., Farrow, E., Stevens, A., Delk, P., White, K. E. & Weaver, D. D., Feb 1 2014, In : American Journal of Medical Genetics, Part A. 164, 2, p. 287-290 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Adoptive transfer of MART-1 T-cell receptor transgenic lymphocytes and dendritic cell vaccination in patients with metastatic melanoma

Chodon, T., Comin-Anduix, B., Chmielowski, B., Koya, R. C., Wu, Z., Auerbach, M., Ng, C., Avramis, E., Seja, E., Villanueva, A., McCannel, T. A., Ishiyama, A., Czernin, J., Radu, C. G., Wang, X., Gjertson, D. W., Cochran, A. J., Cornetta, K., Wong, D. J. L., Kaplan-Lefko, P. & 14 others, Hamid, O., Samlowski, W., Cohen, P. A., Daniels, G. A., Mukherji, B., Yang, L., Zack, J. A., Kohn, D. B., Heath, J. R., Glaspy, J. A., Witte, O. N., Baltimore, D., Economou, J. S. & Ribas, A., May 1 2014, In : Clinical Cancer Research. 20, 9, p. 2457-2465 9 p.

Research output: Contribution to journalArticle

105 Scopus citations

Age-specific incidence rates for dementia and alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for late-onset Alzheimer disease/National Cell Repository for Alzheimer disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)

Vardarajan, B. N., Faber, K. M., Bird, T. D., Bennett, D. A., Rosenberg, R., Boeve, B. F., Graff-Radford, N. R., Goate, A. M., Farlow, M., Sweet, R. A., Lantigua, R., Medrano, M. Z., Ottman, R., Schaid, D. J., Foroud, T. M. & Mayeux, R., Mar 2014, In : JAMA Neurology. 71, 3, p. 315-323 9 p.

Research output: Contribution to journalArticle

26 Scopus citations

A horizon-prioritizing method can identify gaps among genomic application guidelines

Li, L., Apr 1 2014, In : Clinical Pharmacology and Therapeutics. 95, 4, p. 368-369 2 p.

Research output: Contribution to journalReview article

Alcohol-preferring rats show decreased corticotropin-releasing hormone-2 receptor expression and differences in hpa activation compared to alcohol-nonpreferring rats

Yong, W., Spence, J. P., Eskay, R., Fitz, S. D., Damadzic, R., Lai, D., Foroud, T., Carr, L. G., Shekhar, A., Chester, J. A., Heilig, M. & Liang, T., May 2014, In : Alcoholism: Clinical and Experimental Research. 38, 5, p. 1275-1283 9 p.

Research output: Contribution to journalArticle

14 Scopus citations
26 Scopus citations

An ADH1B variant and peer drinking in progression to adolescent drinking milestones: Evidence of a gene-by-environment interaction

Olfson, E., Edenberg, H. J., Nurnberger, J., Agrawal, A., Bucholz, K. K., Almasy, L. A., Chorlian, D., Dick, D. M., Hesselbrock, V. M., Kramer, J. R., Kuperman, S., Porjesz, B., Schuckit, M. A., Tischfield, J. A., Wang, J. C., Wetherill, L., Foroud, T. M., Rice, J., Goate, A. & Bierut, L. J., Oct 1 2014, In : Alcoholism: Clinical and Experimental Research. 38, 10, p. 2541-2549 9 p.

Research output: Contribution to journalArticle

25 Scopus citations

APOE and BCHE as modulators of cerebral amyloid deposition: A florbetapir PET genome-wide association study

Ramanan, V. K., Risacher, S. L., Nho, K., Kim, S., Swaminathan, S., Shen, L., Foroud, T. M., Hakonarson, H., Huentelman, M. J., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Koeppe, R. A., Jagust, W. J., Weiner, M. W. & Saykin, A. J., Mar 1 2014, In : Molecular Psychiatry. 19, 3, p. 351-357 7 p.

Research output: Contribution to journalArticle

112 Scopus citations

APOE ε4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba

Hendrie, H. C., Murrell, J., Baiyewu, O., Lane, K. A., Purnell, C., Ogunniyi, A., Unverzagt, F. W., Hall, K., Callahan, C. M., Saykin, A. J., Gureje, O., Hake, A., Foroud, T. & Gao, S., Jun 2014, In : International Psychogeriatrics. 26, 6, p. 977-985 9 p.

Research output: Contribution to journalArticle

29 Scopus citations