Medical & Molecular Genetics

Publications

2018

Mixture drug-count response model for the high-dimensional drug combinatory effect on myopathy

Wang, X., Zhang, P., Chiang, C. W., Wu, H., Shen, L., Ning, X., Zeng, D., Wang, L., Quinney, S. K., Feng, W. & Li, L., Feb 20 2018, In : Statistics in Medicine. 37, 4, p. 673-686 14 p.

Research output: Contribution to journalArticle

4 Scopus citations

Mosquito control practices and perceptions: An analysis of economic stakeholders during the Zika epidemic in Belize, Central America

Duman-Scheel, M., Eggleson, K. K., Achee, N. L., Grieco, J. P. & Hapairai, L. K., Jul 2018, In : PloS one. 13, 7, e0201075.

Research output: Contribution to journalArticle

3 Scopus citations

Mutational mechanisms that activate wnt signaling and predict outcomes in colorectal cancer patients

Hankey, W., McIlhatton, M. A., Ebede, K., Kennedy, B., Hancioglu, B., Zhang, J., Brock, G. N., Huang, K. & Groden, J., Feb 1 2018, In : Cancer Research. 78, 3, p. 617-630 14 p.

Research output: Contribution to journalArticle

4 Scopus citations

Neuron-specific HuR-deficient mice spontaneously develop motor neuron disease

Sun, K., Li, X., Chen, X., Bai, Y., Zhou, G., Kokiko-Cochran, O. N., Lamb, B., Hamilton, T. A., Lin, C. Y., Lee, Y. S. & Herjan, T., Jul 1 2018, In : Journal of Immunology. 201, 1, p. 157-166 10 p.

Research output: Contribution to journalArticle

6 Scopus citations

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

7 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
4 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

26 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

48 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

22 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

9 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

39 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

45 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
20 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
92 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

33 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
2019

Advances in the Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells

Ohlemacher, S. K., Langer, K. B., Fligor, C. M., Feder, E. M., Edler, M. C. & Meyer, J. S., Jan 1 2019, Advances in Experimental Medicine and Biology. Springer New York LLC, p. 121-140 20 p. (Advances in Experimental Medicine and Biology; vol. 1186).

Research output: Chapter in Book/Report/Conference proceedingChapter

Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders

Rao, X., Thapa, K. S., Chen, A. B., Lin, H., Gao, H., Reiter, J. L., Hargreaves, K. A., Ipe, J., Lai, D., Xuei, X., Wang, Y., Gu, H., Kapoor, M., Farris, S. P., Tischfield, J., Foroud, T., Goate, A. M., Skaar, T. C., Mayfield, R. D., Edenberg, H. J. & 1 others, Liu, Y., 2019, (Accepted/In press) In : Molecular Psychiatry.

Research output: Contribution to journalArticle

3 Scopus citations

Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism

Kapoor, M., Wang, J. C., Farris, S. P., Liu, Y., McClintick, J., Gupta, I., Meyers, J. L., Bertelsen, S., Chao, M., Nurnberger, J., Tischfield, J., Harari, O., Zeran, L., Hesselbrock, V., Bauer, L., Raj, T., Porjesz, B., Agrawal, A., Foroud, T., Edenberg, H. J. & 2 others, Mayfield, R. D. & Goate, A., Dec 1 2019, In : Translational psychiatry. 9, 1, 89.

Research output: Contribution to journalArticle

12 Scopus citations

Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis

Moe, S. M., Long, J., Schwantes-An, T. H. L., Decker, B. S., Wetherill, L., Edenberg, H. J., Xuei, X., Vatta, M., Foroud, T. M. & Chertow, G. M., Nov 1 2019, In : Nephrology Dialysis Transplantation. 34, 11, p. 1924-1931 8 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Aug 1 2019, In : Acta Neuropathologica. 138, 2, p. 237-250 14 p.

Research output: Contribution to journalArticle

Open Access
16 Scopus citations

A Novel Joint Brain Network Analysis Using Longitudinal Alzheimer’s Disease Data

The Alzheimer’s Disease Neuroimaging Initiative, Dec 1 2019, In : Scientific reports. 9, 1, 19589.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Castelluccio, V. J., Vetrini, F., Lynnes, T., Jones, J., Holloway, L., Belonis, A., Breman, A. M., Graham, B. H., Sapp, K., Wilson, T., Schwartz, C. E., Pratt, V. M. & Weaver, D. D., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2357-2364 8 p.

Research output: Contribution to journalArticle

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 2019, In : Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Association of polygenic liability for alcohol dependence and EEG connectivity in adolescence and young adulthood

Meyers, J. L., Chorlian, D. B., Johnson, E. C., Pandey, A. K., Kamarajan, C., Salvatore, J. E., Aliev, F., de Viteri, S. S. S., Zhang, J., Chao, M., Kapoor, M., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J., Tischfield, J., Goate, A., Foroud, T., Dick, D. M., Edenberg, H. J. & 2 others, Agrawal, A. & Porjesz, B., Oct 2019, In : Brain Sciences. 9, 10, 280.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Astrocytes Regulate the Development and Maturation of Retinal Ganglion Cells Derived from Human Pluripotent Stem Cells

VanderWall, K. B., Vij, R., Ohlemacher, S. K., Sridhar, A., Fligor, C. M., Feder, E. M., Edler, M. C., Baucum, A. J., Cummins, T. R. & Meyer, J. S., Feb 12 2019, In : Stem Cell Reports. 12, 2, p. 201-212 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

A Systematic Review of miR-29 in Cancer

Kwon, J. J., Factora, T. D., Dey, S. & Kota, J., Mar 29 2019, In : Molecular Therapy - Oncolytics. 12, p. 173-194 22 p.

Research output: Contribution to journalReview article

25 Scopus citations

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Sep 1 2019, In : Nature genetics. 51, 9, p. 1423-1424 2 p.

Research output: Contribution to journalComment/debate

Open Access
3 Scopus citations

BERMUDA: A novel deep transfer learning method for single-cell RNA sequencing batch correction reveals hidden high-resolution cellular subtypes

Wang, T., Johnson, T. S., Shao, W., Lu, Z., Helm, B. R., Zhang, J. & Huang, K., Aug 12 2019, In : Genome biology. 20, 1, 165.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Biological Hallmarks of Cancer in Alzheimer’s Disease

Nudelman, K. N. H., McDonald, B. C., Lahiri, D. K. & Saykin, A. J., Oct 1 2019, In : Molecular Neurobiology. 56, 10, p. 7173-7187 15 p.

Research output: Contribution to journalReview article

7 Scopus citations

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Bipolar Disorder Working Group of the Psychiatric Genomics Consortium & Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 2019, (Accepted/In press) In : Molecular Psychiatry.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls

Agalliu, I., Ortega, R. A., Luciano, M. S., Mirelman, A., Pont-Sunyer, C., Brockmann, K., Vilas, D., Tolosa, E., Berg, D., Warø, B., Glickman, A., Raymond, D., Inzelberg, R., Ruiz-Martinez, J., Mondragon, E., Friedman, E., Hassin-Baer, S., Alcalay, R. N., Mejia-Santana, H., Aasly, J. & 5 others, Foroud, T., Marder, K., Giladi, N., Bressman, S. & Saunders-Pullman, R., Sep 1 2019, In : Movement Disorders. 34, 9, p. 1392-1398 7 p.

Research output: Contribution to journalArticle

4 Scopus citations