Medical & Molecular Genetics

Publications

2018

Next generation MicroRNA sequencing to identify coronary artery disease patients at risk of recurrent myocardial infarction

Kanuri, S. H., Ipe, J., Kassab, K., Gao, H., Liu, Y., Skaar, T. C. & Kreutz, R. P., Nov 2018, In : Atherosclerosis. 278, p. 232-239 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Normal breast-derived epithelial cells with luminal and intrinsic subtype-enriched gene expression document interindividual differences in their differentiation Cascade

Kumar, B., Prasad, M., Bhat-Nakshatri, P., Anjanappa, M., Kalra, M., Marino, N., Storniolo, A. M., Rao, X., Liu, S., Wan, J., Liu, Y. & Nakshatri, H., Sep 1 2018, In : Cancer Research. 78, 17, p. 5107-5123 17 p.

Research output: Contribution to journalArticle

8 Scopus citations

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

Nelson, K., Jackman, C., Bell, J., Shih, C-S., Payne, K., Dlouhy, S. & Walsh, L., Dec 1 2018, In : Journal of Child Neurology. 33, 14, p. 925-929 5 p.

Research output: Contribution to journalArticle

Ondansetron blocks wild-type and p.F503l variant small-conductance Ca2+-activated K+ channels

Ko, J. S., Guo, S., Hassel, J., Celestino-Soper, P., Lynnes, T. C., Tisdale, J. E., Zheng, J. J., Taylor, S. E., Foroud, T., Murray, M. D., Kovacs, R. J., Li, X., Lin, S. F., Chen, Z., Vatta, M., Chen, P. S. & Rubart, M., Aug 2018, In : American Journal of Physiology - Heart and Circulatory Physiology. 315, 2, p. H375-H388

Research output: Contribution to journalArticle

6 Scopus citations

PASSPORT-seq: A novel high-throughput bioassay to functionally test polymorphisms in micro-RNA target sites

Ipe, J., Collins, K. S., Hao, Y., Gao, H., Bhatia, P., Gaedigk, A., Liu, Y. & Skaar, T. C., Jun 15 2018, In : Frontiers in Genetics. 9, JUN, 219.

Research output: Contribution to journalArticle

3 Scopus citations

Pattern Discovery from High-Order Drug-Drug Interaction Relations

Chiang, W. H., Schleyer, T., Shen, L., Li, L. & Ning, X., Sep 1 2018, In : Journal of Healthcare Informatics Research. 2, 3, p. 272-304 33 p.

Research output: Contribution to journalArticle

Presymptomatic change in microRNAs modulates Tau pathology

Sharma, S., Khadimallah, I., Corya, A. W., Ali, Y. O., Rao, X., Liu, Y. & Lu, H. C., Dec 1 2018, In : Scientific reports. 8, 1, 9251.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Racial disparities in adverse pregnancy outcomes and psychosocial stress

Eunice Kennedy Shriver National Institute of Child Health and Human Development Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) Network, Feb 1 2018, In : Obstetrics and gynecology. 131, 2, p. 328-335 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Retinal Ganglion Cell Diversity and Subtype Specification from Human Pluripotent Stem Cells

Langer, K. B., Ohlemacher, S. K., Phillips, M. J., Fligor, C. M., Jiang, P., Gamm, D. M. & Meyer, J. S., Apr 10 2018, In : Stem Cell Reports. 10, 4, p. 1282-1293 12 p.

Research output: Contribution to journalArticle

Open Access
31 Scopus citations

Rifampin modulation of xeno- and endobiotic conjugating enzyme mRNA expression and associated microRNAs in human hepatocytes

Gufford, B. T., Robarge, J. D., Eadon, M. T., Gao, H., Lin, H., Liu, Y., Desta, Z. & Skaar, T. C., Apr 2018, In : Pharmacology Research and Perspectives. 6, 2, e00386.

Research output: Contribution to journalArticle

5 Scopus citations

Safety and Efficacy of AAV Retrograde Pancreatic Ductal Gene Delivery in Normal and Pancreatic Cancer Mice

Quirin, K. A., Kwon, J. J., Alioufi, A., Factora, T., Temm, C. J., Jacobsen, M., Sandusky, G. E., Shontz, K., Chicoine, L. G., Clark, K. R., Mendell, J. T., Korc, M. & Kota, J., Mar 16 2018, In : Molecular Therapy - Methods and Clinical Development. 8, p. 8-20 13 p.

Research output: Contribution to journalArticle

3 Scopus citations

Screening Clinical Cell Products for Replication Competent Retrovirus: The National Gene Vector Biorepository Experience

Cornetta, K., Duffy, L., Feldman, S. A., Mackall, C. L., Davila, M. L., Curran, K. J., Junghans, R. P., Tang, J. Y., Kochenderfer, J. N., O'Cearbhaill, R., Archer, G., Kiem, H. P., Shah, N. N., Delbrook, C., Kaplan, R., Brentjens, R. J., Rivière, I., Sadelain, M. & Rosenberg, S. A., Sep 21 2018, In : Molecular Therapy - Methods and Clinical Development. 10, p. 371-378 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA Neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

43 Scopus citations

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Dec 1 2018, In : Acta Neuropathologica. 136, 6, p. 857-872 16 p.

Research output: Contribution to journalArticle

20 Scopus citations

Simultaneous inhibition of MEK and Hh signaling reduces pancreatic cancer metastasis

Gu, D., Lin, H., Zhang, X., Fan, Q., Chen, S., Shahda, S., Liu, Y., Sun, J. & Xie, J., Nov 2018, In : Cancers. 10, 11, 403.

Research output: Contribution to journalArticle

5 Scopus citations

Soluble TREM2 and biomarkers of central and peripheral inflammation in neurodegenerative disease

Bekris, L. M., Khrestian, M., Dyne, E., Shao, Y., Pillai, J., Rao, S., Bemiller, S. M., Lamb, B., Fernandez, H. H. & Leverenz, J. B., Jun 15 2018, In : Journal of Neuroimmunology. 319, p. 19-27 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Tau mutations as a novel risk factor for cancer—letter

the LEFFTDS Consortium, Nov 15 2018, In : Cancer Research. 78, 22, p. 6523-6524 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort

the Parkinson's Progression Markers Initiative, Dec 2018, In : Annals of Clinical and Translational Neurology. 5, 12, p. 1460-1477 18 p.

Research output: Contribution to journalArticle

33 Scopus citations

The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor’s Perspective

Verbrugge, J., Rumbaugh, M., Cook, L., Schulze, J., Miller, M., Heathers, L., Arnedo, V., Kuhl, M. M. G. & Foroud, T., Apr 1 2018, In : Journal of Genetic Counseling. 27, 2, p. 326-328 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer's disease

Cheng-Hathaway, P. J., Reed-Geaghan, E. G., Jay, T. R., Casali, B. T., Bemiller, S. M., Puntambekar, S. S., Von Saucken, V. E., Williams, R. Y., Karlo, J. C., Moutinho, M., Xu, G., Ransohoff, R. M., Lamb, B. T. & Landreth, G. E., Jun 1 2018, In : Molecular Neurodegeneration. 13, 1, 29.

Research output: Contribution to journalArticle

38 Scopus citations

Three-Component Mixture Model-Based Adverse Drug Event Signal Detection for the Adverse Event Reporting System

Zhang, P., Li, M., Chiang, C. W., Wang, L., Xiang, Y., Cheng, L., Feng, W., Schleyer, T. K., Quinney, S. K., Wu, H. Y., Zeng, D. & Li, L., Aug 2018, In : CPT: Pharmacometrics and Systems Pharmacology. 7, 8, p. 499-506 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Three-Dimensional Retinal Organoids Facilitate the Investigation of Retinal Ganglion Cell Development, Organization and Neurite Outgrowth from Human Pluripotent Stem Cells

Fligor, C. M., Langer, K. B., Sridhar, A., Ren, Y., Shields, P. K., Edler, M. C., Ohlemacher, S. K., Sluch, V. M., Zack, D. J., Zhang, C., Suter, D. M. & Meyer, J. S., Dec 1 2018, In : Scientific reports. 8, 1, 14520.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

23andMe Research Team, Dec 1 2018, In : Nature Neuroscience. 21, 12, p. 1656-1669 14 p.

Research output: Contribution to journalArticle

Open Access
86 Scopus citations

Translational biomedical informatics and pharmacometrics approaches in the drug interactions research

Zhang, P., Wu, H. Y., Chiang, C. W., Wang, L., Binkheder, S., Wang, X., Zeng, D., Quinney, S. K. & Li, L., Feb 1 2018, In : CPT: Pharmacometrics and Systems Pharmacology. 7, 2, p. 90-102 13 p.

Research output: Contribution to journalReview article

5 Scopus citations

Translational High-Dimensional Drug Interaction Discovery and Validation Using Health Record Databases and Pharmacokinetics Models

Chiang, C. W., Zhang, P., Wang, X., Wang, L., Zhang, S., Ning, X., Shen, L., Quinney, S. K. & Li, L., Feb 2018, In : Clinical Pharmacology and Therapeutics. 103, 2, p. 287-295 9 p.

Research output: Contribution to journalArticle

13 Scopus citations

Traumatic Brain Injury in hTau Model Mice: Enhanced Acute Macrophage Response and Altered Long-Term Recovery

Kokiko-Cochran, O. N., Saber, M., Puntambekar, S., Bemiller, S. M., Katsumoto, A., Lee, Y. S., Bhaskar, K., Ransohoff, R. M. & Lamb, B. T., Jan 1 2018, In : Journal of neurotrauma. 35, 1, p. 73-84 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The Genetic FTD Initiative (GENFI) & The Alzheimer’s Disease Neuroimaging Initiative (ADNI), Dec 1 2018, In : Nature communications. 9, 1, 4273.

Research output: Contribution to journalArticle

30 Scopus citations

Variants in the CYP2B6 3′UTR Alter In Vitro and In Vivo CYP2B6 Activity: Potential Role of MicroRNAs

Burgess, K. S., Ipe, J., Swart, M., Metzger, I. F., Lu, J., Gufford, B. T., Thong, N., Desta, Z., Gaedigk, R., Pearce, R. E., Gaedigk, A., Liu, Y. & Skaar, T. C., Jul 2018, In : Clinical Pharmacology and Therapeutics. 104, 1, p. 130-138 9 p.

Research output: Contribution to journalArticle

10 Scopus citations
2017

A cancer stem cell model as the point of origin of cancer-associated fibroblasts in tumor microenvironment

Nair, N., Calle, A. S., Zahra, M. H., Prieto-Vila, M., Oo, A. K. K., Hurley, L., Vaidyanath, A., Seno, A., Masuda, J., Iwasaki, Y., Tanaka, H., Kasai, T. & Seno, M., Dec 1 2017, In : Scientific reports. 7, 1, 6838.

Research output: Contribution to journalArticle

40 Scopus citations

Adherence and Tolerability of Alzheimer's Disease Medications: A Pragmatic Randomized Trial

Campbell, N. L., Perkins, A. J., Gao, S., Skaar, T. C., Li, L., Hendrie, H. C., Fowler, N., Callahan, C. M. & Boustani, M. A., Jul 2017, In : Journal of the American Geriatrics Society. 65, 7, p. 1497-1504 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Adult neurogenesis and neurodegenerative diseases: A systems biology perspective

Horgusluoglu, E., Nudelman, K., Nho, K. & Saykin, A. J., Jan 1 2017, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 174, 1, p. 93-112 20 p.

Research output: Contribution to journalReview article

55 Scopus citations

A GABRA2 polymorphism improves a model for prediction of drinking initiation

Kuperman, S., Chan, G., Kramer, J., Wetherill, L., Acion, L., Edenberg, H. J., Foroud, T. M., Nurnberger, J., Agrawal, A., Anokhin, A., Brooks, A., Hesselbrock, V., Hesselbrock, M., Schuckit, M., Tischfield, J. & Liu, X., Sep 2017, In : Alcohol. 63, p. 1-8 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

A genome wide association study of fast beta EEG in families of European ancestry

Meyers, J. L., Zhang, J., Manz, N., Rangaswamy, M., Kamarajan, C., Wetherill, L., Chorlian, D. B., Kang, S. J., Bauer, L., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J. I., Tischfield, J., Wang, J. C., Edenberg, H. J., Goate, A., Foroud, T. & Porjesz, B., May 1 2017, In : International Journal of Psychophysiology. 115, p. 74-85 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Alzheimer's Disease Sequencing Project discovery and replication criteria for cases and controls: Data from a community-based prospective cohort study with autopsy follow-up

Crane, P. K., Foroud, T., Montine, T. J. & Larson, E. B., Dec 2017, In : Alzheimer's and Dementia. 13, 12, p. 1410-1413 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

A mass graph-based approach for the identification of modified proteoforms using top-down tandem mass spectra

Kou, Q., Wu, S., Tolić, N., Paša-Tolić, L., Liu, Y. & Liu, X., May 1 2017, In : Bioinformatics. 33, 9, p. 1309-1316 8 p.

Research output: Contribution to journalArticle

12 Scopus citations

An endophenotype approach to the genetics of alcohol dependence: A genome wide association study of fast beta EEG in families of African ancestry

Meyers, J. L., Zhang, J., Wang, J. C., Su, J., Kuo, S. I., Kapoor, M., Wetherill, L., Bertelsen, S., Lai, D., Salvatore, J. E., Kamarajan, C., Chorlian, D., Agrawal, A., Almasy, L., Bauer, L., Bucholz, K. K., Chan, G., Hesselbrock, V., Koganti, L., Kramer, J. & 11 others, Kuperman, S., Manz, N., Pandey, A., Seay, M., Scott, D., Taylor, R. E., Dick, D. M., Edenberg, H. J., Goate, A., Foroud, T. & Porjesz, B., Dec 1 2017, In : Molecular Psychiatry. 22, 12, p. 1767-1775 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer’s disease

Nho, K., Kim, S., Horgusluoglu, E., Risacher, S. L., Shen, L., Kim, D., Lee, S., Foroud, T., Shaw, L. M., Trojanowski, J. Q., Aisen, P. S., Petersen, R. C., Jack, C. R., Weiner, M. W., Green, R. C., Toga, A. W. & Saykin, A. J., May 24 2017, In : BMC Medical Genomics. 10, 29.

Research output: Contribution to journalArticle

9 Scopus citations

Association of plasma neurofilament light with neurodegeneration in patients with Alzheimer disease

Alzheimer's Disease Neuroimaging Initiative, May 2017, In : JAMA Neurology. 74, 5, p. 557-566 10 p.

Research output: Contribution to journalArticle

201 Scopus citations

Biomedical informatics approaches to identifying drug-drug interactions application to insulin secretagogues

Han, X., Chiang, C. W., Leonard, C. E., Bilker, W. B., Brensinger, C. M., Li, L. & Hennessy, S., May 1 2017, In : Epidemiology. 28, 3, p. 459-468 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

Both MisR (CpxR) and MisS (CpxA) are required for Neisseria gonorrhoeae infection in a murine model of lower genital tract infection

Gangaiah, D., Raterman, E. L., Wu, H., Fortney, K. R., Gao, H., Liu, Y., Jerse, A. E. & Spinola, S. M., Sep 1 2017, In : Infection and immunity. 85, 9, e00307-17.

Research output: Contribution to journalArticle

11 Scopus citations

Calcium-sensing receptor genotype and response to cinacalcet in patients undergoing hemodialysis

Moe, S. M., Wetherill, L., Decker, B. S., Lai, D., Abdalla, S., Long, J., Vatta, M., Foroud, T. M. & Chertow, G. M., Jul 7 2017, In : Clinical Journal of the American Society of Nephrology. 12, 7, p. 1128-1138 11 p.

Research output: Contribution to journalArticle

9 Scopus citations

Cancer Genetic Counselors’ Current Practices and Attitudes Related to the Use of Tumor Profiling

Goedde, L. A. N., Stupiansky, N. W., Lah, M., Quaid, K. A. & Cohen, S., Aug 1 2017, In : Journal of Genetic Counseling. 26, 4, p. 878-886 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Characterizing gene and protein crosstalks in subjects at risk of developing Alzheimer's disease: A new computational approach

for the Alzheimer's Disease Neuroimaging Initiative, Sep 1 2017, In : Processes. 5, 3, 47.

Research output: Contribution to journalArticle

1 Scopus citations

Characterizing the roles of long non-coding RNA in rat alcohol preference

Zhou, A., Wang, Y., Liu, Y., Feng, W. & Edenberg, H., Jan 17 2017, Proceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016. Institute of Electrical and Electronics Engineers Inc., p. 167-173 7 p. 7822513

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

Chronic Cigarette Smoke-Induced Epigenomic Changes Precede Sensitization of Bronchial Epithelial Cells to Single-Step Transformation by KRAS Mutations

Vaz, M., Hwang, S. Y., Kagiampakis, I., Phallen, J., Patil, A., O'Hagan, H. M., Murphy, L., Zahnow, C. A., Gabrielson, E., Velculescu, V. E., Easwaran, H. P. & Baylin, S. B., Sep 11 2017, In : Cancer Cell. 32, 3, p. 360-376.e6

Research output: Contribution to journalArticle

65 Scopus citations

Chronic hyperphosphatemia and vascular calcification are reduced by stable delivery of soluble klotho

Hum, J. M., O'Bryan, L. M., Tatiparthi, A. K., Cass, T. A., Clinkenbeard, E. L., Cramer, M. S., Bhaskaran, M., Johnson, R. L., Wilson, J. M., Smith, R. C. & White, K. E., Apr 2017, In : Journal of the American Society of Nephrology. 28, 4, p. 1162-1174 13 p.

Research output: Contribution to journalArticle

29 Scopus citations

Clinical/Scientific Notes: The Alzheimer's disease sequencing project: Study design and sample selection

Beecham, G. W., Bis, J. C., Martin, E. R., Choi, S. H., DeStefano, A. L., Van Duijn, C. M., Fornage, M., Gabriel, S. B., Koboldt, D. C., Larson, D. E., Naj, A. C., Psaty, B. M., Salerno, W., Bush, W. S., Foroud, T. M., Wijsman, E., Farrer, L. A., Goate, A., Haines, J. L., Pericak-Vance, M. A. & 4 others, Boerwinkle, E., Mayeux, R., Seshadri, S. & Schellenberg, G., Oct 1 2017, In : Neurology: Genetics. 3, 5, e194.

Research output: Contribution to journalArticle

23 Scopus citations

Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency

Shaw, K. L., Garabedian, E., Mishra, S., Barman, P., Davila, A., Carbonaro, D., Shupien, S., Silvin, C., Geiger, S., Nowicki, B., Smogorzewska, E. M., Brown, B., Wang, X., De Oliveira, S., Choi, Y., Ikeda, A., Terrazas, D., Fu, P. Y., Yu, A., Fernandez, B. C. & 24 others, Cooper, A. R., Engel, B., Podsakoff, G., Balamurugan, A., Anderson, S., Muul, L., Jagadeesh, G. J., Kapoor, N., Tse, J., Moore, T. B., Purdy, K., Rishi, R., Mohan, K., Skoda-Smith, S., Buchbinder, D., Abraham, R. S., Scharenberg, A., Yang, O. O., Cornetta, K., Gjertson, D., Hershfield, M., Sokolic, R., Candotti, F. & Kohn, D. B., May 1 2017, In : Journal of Clinical Investigation. 127, 5, p. 1689-1699 11 p.

Research output: Contribution to journalArticle

38 Scopus citations