Research Output

2020

5-Hydroxymethylcytosine profiles in circulating cell-free DNA associate with disease burden in children with neuroblastoma

Applebaum, M. A., Barr, E. K., Karpus, J., West-Szymanski, D. C., Oliva, M., Sokol, E. A., Zhang, S., Zhang, Z., Zhang, W., Chlenski, A., Salwen, H. R., Wilkinson, E., Dobratic, M., Grossman, R. L., Godley, L. A., Stranger, B. E., He, C. & Cohn, S. L., Mar 15 2020, In : Clinical Cancer Research. 26, 6, p. 1309-1317 9 p.

Research output: Contribution to journalArticle

Acyloxyacyl hydrolase regulates voiding activity

Aguiniga, L. M., Searl, T. J., Rahman-Enyart, A., Yaggie, R. E., Yang, W., Schaeffer, A. J. & Klumpp, D. J., Apr 1 2020, In : American journal of physiology. Renal physiology. 318, 4, p. F1006-F1016

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping

Demonbreun, A. R., Wyatt, E. J., Fallon, K. S., Oosterbaan, C. C., Page, P. G., Hadhazy, M., Quattrocelli, M., Barefield, D. Y. & McNally, E. M., Jan 1 2020, In : DMM Disease Models and Mechanisms. 13, 2, dmm040832.

Research output: Contribution to journalArticle

Open Access

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Thompson, C. H., Ben-Shalom, R., Bender, K. J. & George, A. L., Mar 2 2020, In : Journal of General Physiology. 152, 3, 201912442.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

CACNA1H variants are not a cause of monogenic epilepsy

Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In : Human mutation. 41, 6, p. 1138-1144 7 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Cross-site and cross-platform variability of automated patch clamp assessments of drug effects on human cardiac currents in recombinant cells

Kramer, J., Himmel, H. M., Lindqvist, A., Stoelzle-Feix, S., Chaudhary, K. W., Li, D., Bohme, G. A., Bridgland-Taylor, M., Hebeisen, S., Fan, J., Renganathan, M., Imredy, J., Humphries, E. S. A., Brinkwirth, N., Strassmaier, T., Ohtsuki, A., Danker, T., Vanoye, C., Polonchuk, L., Fermini, B. & 2 others, Pierson, J. B. & Gintant, G., Dec 1 2020, In : Scientific reports. 10, 1, 5627.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Decoding KCNH2 variants of unknown significance

Vanoye, C. G. & George, A. L., Mar 2020, In : Heart rhythm. 17, 3, p. 501-502 2 p.

Research output: Contribution to journalEditorial

1 Scopus citations

Discovery of novel hepatocyte eQTLs in African Americans

Zhong, Y., De, T., Alarcon, C., Sehwan Park, C., Lec, B. & Perera, M. A., Apr 2020, In : PLoS genetics. 16, 4, e1008662.

Research output: Contribution to journalArticle

Open Access

Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span

for the NINDS/AES Benchmarks Stewards Committee, Jan 1 2020, In : Epilepsy Currents. 20, 1_suppl, p. 31S-39S

Research output: Contribution to journalReview article

Open Access

Excitatory VTA to DH projections provide a valence signal to memory circuits

Han, Y., Zhang, Y., Kim, H., Grayson, V. S., Jovasevic, V., Ren, W., Centeno, M. V., Guedea, A. L., Meyer, M. A. A., Wu, Y., Gutruf, P., Surmeier, D. J., Gao, C., Martina, M., Apkarian, A. V., Rogers, J. A. & Radulovic, J., Dec 1 2020, In : Nature communications. 11, 1, 1466.

Research output: Contribution to journalArticle

Open Access

Extracellular Domains i and II of cell-surface glycoprotein CD44 mediate its trans-homophilic dimerization and tumor cluster aggregation

Kawaguchi, M., Dashzeveg, N., Cao, Y., Jia, Y., Liu, X., Shen, Y. & Liu, H., Feb 28 2020, In : Journal of Biological Chemistry. 295, 9, p. 2640-2649 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

First-in-Human Studies of MW01-6-189WH, a Brain-Penetrant, Antineuroinflammatory Small-Molecule Drug Candidate: Phase 1 Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Studies in Healthy Adult Volunteers

Van Eldik, L. J., Sawaki, L., Bowen, K., Laskowitz, D. T., Noveck, R. J., Hauser, B., Jordan, L., Spears, T. G., Wu, H., Watt, K., Raja, S., Roy, S. M., Watterson, D. M. & Guptill, J. T., 2020, (Accepted/In press) In : Clinical Pharmacology in Drug Development.

Research output: Contribution to journalArticle

Open Access

Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis

Asiimwe, I. G., Zhang, E. J., Osanlou, R., Krause, A., Dillon, C., Suarez-Kurtz, G., Zhang, H., Perini, J. A., Renta, J. Y., Duconge, J., Cavallari, L. H., Marcatto, L. R., Beasly, M. T., Perera, M. A., Limdi, N. A., Santos, P. C. J. L., Kimmel, S. E., Lubitz, S. A., Scott, S. A., Kawai, V. K. & 2 others, Jorgensen, A. L. & Pirmohamed, M., Jun 1 2020, In : Clinical pharmacology and therapeutics. 107, 6, p. 1420-1433 14 p.

Research output: Contribution to journalArticle

1 Scopus citations

Human In Vitro Models for Assessing the Genomic Basis of Chemotherapy-Induced Cardiovascular Toxicity

Pinheiro, E. A., Magdy, T. & Burridge, P. W., Jun 1 2020, In : Journal of Cardiovascular Translational Research. 13, 3, p. 377-389 13 p.

Research output: Contribution to journalReview article

1 Scopus citations

Immunosuppressive IDO in Cancer: Mechanisms of Action, Animal Models, and Targeting Strategies

Zhai, L., Bell, A., Ladomersky, E., Lauing, K. L., Bollu, L., Sosman, J. A., Zhang, B., Wu, J. D., Miller, S. D., Meeks, J. J., Lukas, R. V., Wyatt, E. J., Doglio, L., Schiltz, G. E., McCusker, R. H. & Wainwright, D. A., Jun 16 2020, In : Frontiers in immunology. 11, 1185.

Research output: Contribution to journalReview article

Open Access

Impact of CYP2C9-Interacting Drugs on Warfarin Pharmacogenomics

Agrawal, S., Heiss, M. S., Fenter, R. B., Abramova, T. V., Perera, M. A., Pacheco, J. A., Smith, M. E., Rasmussen-Torvik, L. J. & George, A. L., Jan 1 2020, (Accepted/In press) In : Clinical and Translational Science.

Research output: Contribution to journalArticle

Open Access

Influence of ionic plasticizers on the processing and viscosity of starch melts

Decaen, P., Rolland-Sabaté, A., Colomines, G., Guilois, S., Lourdin, D., Della Valle, G. & Leroy, E., Feb 15 2020, In : Carbohydrate Polymers. 230, 115591.

Research output: Contribution to journalArticle

2 Scopus citations

ITGA2 promotes expression of ACLY and CCND1 in enhancing breast cancer stemness and metastasis

Adorno-Cruz, V., Hoffmann, A. D., Liu, X., Dashzeveg, N. K., Taftaf, R., Wray, B., Keri, R. A. & Liu, H., Jan 1 2020, (Accepted/In press) In : Genes and Diseases.

Research output: Contribution to journalArticle

Open Access

Long QT Syndrome Type 1 in an Australian Indigenous Patient

Ganesan, A. N., Vanoye, C. G., Alam, F., Waddell-Smith, K. E., McGavigan, A. D., Correnti, G., Haan, E., Brown, A., Vandenberg, J. & George, A. L., Jan 1 2020, (Accepted/In press) In : Circulation: Genomic and Precision Medicine. p. 93-94 2 p.

Research output: Contribution to journalLetter

Microarray analyses of the dorsal root ganglia support a role for innate neuro-immune pathways in persistent pain in experimental osteoarthritis

Miller, R. E., Tran, P. B., Ishihara, S., Syx, D., Ren, D., Miller, R. J., Valdes, A. M. & Malfait, A. M., May 2020, In : Osteoarthritis and Cartilage. 28, 5, p. 581-592 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain

Vien, T. N., Wang, J., Ng, L. C. T., Cao, E. & DeCaen, P. G., May 12 2020, In : Proceedings of the National Academy of Sciences of the United States of America. 117, 19, p. 10329-10338 10 p.

Research output: Contribution to journalArticle

Open Access

Negligible-Cost and Weekend-Free Chemically Defined Human iPSC Culture

Kuo, H. H., Gao, X., DeKeyser, J. M., Fetterman, K. A., Pinheiro, E. A., Weddle, C. J., Fonoudi, H., Orman, M. V., Romero-Tejeda, M., Jouni, M., Blancard, M., Magdy, T., Epting, C. L., George, A. L. & Burridge, P. W., Feb 11 2020, In : Stem cell reports. 14, 2, p. 256-270 15 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Snow, J. P., Westlake, G., Klofas, L. K., Jeon, S., Armstrong, L. C., Swoboda, K. J., George, A. L. & Ess, K. C., Jul 2020, In : Neurobiology of Disease. 141, 104881.

Research output: Contribution to journalArticle

Open Access
Open Access
3 Scopus citations

Pharmacogenomic genotypes define genetic ancestry in patients and enable population-specific genomic implementation

Hernandez, W., Danahey, K., Pei, X., Yeo, K. T. J., Leung, E., Volchenboum, S. L., Ratain, M. J., Meltzer, D. O., Stranger, B. E., Perera, M. A. & O’Donnell, P. H., Feb 1 2020, In : Pharmacogenomics Journal. 20, 1, p. 126-135 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

Pharmacogenomics in pregnancy

Betcher, H. K. & George, A. L., Jan 1 2020, (Accepted/In press) In : Seminars in Perinatology. 151222.

Research output: Contribution to journalReview article

Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification

Magdy, T., Kuo, HH. H. & Burridge, P. W., Apr 24 2020, In : iScience. 23, 4, 100971.

Research output: Contribution to journalArticle

Open Access

PRISM: A Progenitor-Restricted Intersectional Fate Mapping Approach Redefines Forebrain Lineages

Poulin, J. F., Luppi, M. P., Hofer, C., Caronia, G., Hsu, P. K., Chan, C. S. & Awatramani, R., Jun 22 2020, In : Developmental Cell. 53, 6, p. 740-753.e3

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Striatal Kir2 K+ channel inhibition mediates the antidyskinetic effects of amantadine

Shen, W., Ren, W., Zhai, S., Yang, B., Vanoye, C. G., Mitra, A., George, A. L. & James Surmeier, D., May 1 2020, In : Journal of Clinical Investigation. 130, 5, p. 2593-2601 9 p.

Research output: Contribution to journalArticle

Structure and function of polycystin channels in primary cilia

Ta, C. M., Vien, T. N., Ng, L. C. T. & DeCaen, P. G., Aug 2020, In : Cellular Signalling. 72, 109626.

Research output: Contribution to journalArticle

Open Access

Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state

Taylor, K. C., Kang, P. W., Hou, P., Yang, N. D., Kuenze, G., Smith, J. A., Shi, J., Huang, H., White, K. M., Peng, D., George, A. L., Meiler, J., McFeeters, R. L., Cui, J. & Sanders, C. R., Feb 2020, In : eLife. 9, e53901.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome

Brewer, K. R., Kuenze, G., Vanoye, C. G., George, A. L., Meiler, J. & Sanders, C. R., May 4 2020, In : Frontiers in Pharmacology. 11, 550.

Research output: Contribution to journalReview article

Open Access

TACC3 Regulates Microtubule Plus-End Dynamics and Cargo Transport in Interphase Cells

Furey, C., Jovasevic, V. & Walsh, D., Jan 7 2020, In : Cell reports. 30, 1, p. 269-283.e6

Research output: Contribution to journalArticle

Open Access

The basic residues in the Orai1 channel inner pore promote opening of the outer hydrophobic gate

Yamashita, M., Ing, C. E., Yeung, P. S. W., Maneshi, M. M., Pomès, R. & Prakriya, M., Jan 6 2020, In : Journal of General Physiology. 152, 1, p. 1-14 14 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

The Clinical Impact of Cancer Stem Cells

Lathia, J., Liu, H. & Matei, D., Feb 1 2020, In : Oncologist. 25, 2, p. 123-131 9 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

The innate immune response as a mediator of osteoarthritis pain

Miller, R. J., Malfait, A. M. & Miller, R. E., May 2020, In : Osteoarthritis and Cartilage. 28, 5, p. 562-571 10 p.

Research output: Contribution to journalReview article

3 Scopus citations

The sodium channel NaX: Possible player in excitation–contraction coupling

Bogdanovic, E., Potet, F., Marszalec, W., Iyer, H., Galiano, R., Hong, S. J., Leung, K. P., Wasserstrom, J. A., George, A. L. & Mustoe, T. A., Apr 1 2020, In : IUBMB Life. 72, 4, p. 601-606 6 p.

Research output: Contribution to journalArticle

Why African Americans say "no": A study of pharmacogenomic research participation

Nooruddin, M., Scherr, C., Friedman, P., Subrahmanyam, R., Banagan, J., Moreno, D., Sathyanarayanan, M., Nutescu, E., Jeyaram, T., Harris, M., Zhang, H., Rodriguez, A., Shaazuddin, M., Perera, M. & Tuck, M., 2020, In : Ethnicity and Disease. 30, p. 159-166 8 p.

Research output: Contribution to journalReview article

Open Access
1 Scopus citations
2019

5-Hydroxymethylcytosine profiles are prognostic of outcome in neuroblastoma and reveal transcriptional networks that correlate with tumor phenotype

Applebaum, M. A., Barr, E. K., Karpus, J., Nie, J., Zhang, Z., Armstrong, A. E., Uppal, S., Sukhanova, M., Zhang, W., Chlenski, A., Salwen, H. R., Wilkinson, E., Dobratic, M., Grossman, R., Godley, L. A., Stranger, B. E., He, C. & Cohn, S. L., Jan 1 2019, In : JCO Precision Oncology. 3

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

An antibody feeding approach to study glutamate receptor trafficking in dissociated primary hippocampal cultures

Chiu, A. M., Barse, L., Hubalkova, P. & Sanz-Clemente, A., Aug 2019, In : Journal of Visualized Experiments. 2019, 150, e59982.

Research output: Contribution to journalArticle

Are These Cardiomyocytes? Protocol Development Reveals Impact of Sample Preparation on the Accuracy of Identifying Cardiomyocytes by Flow Cytometry

Waas, M., Weerasekera, R., Kropp, E. M., Romero-Tejeda, M., Poon, E. N., Boheler, K. R., Burridge, P. W. & Gundry, R. L., Feb 12 2019, In : Stem cell reports. 12, 2, p. 395-410 16 p.

Research output: Contribution to journalArticle

3 Scopus citations

A review of African Americans' beliefs and attitudes about genomic studies: Opportunities for message design

Scherr, C. L., Ramesh, S., Marshall-Fricker, C. & Perera, M. A., 2019, In : Frontiers in Genetics. 10, JUN, 548.

Research output: Contribution to journalReview article

Open Access
3 Scopus citations

A Selective and Brain Penetrant p38αMAPK Inhibitor Candidate for Neurologic and Neuropsychiatric Disorders That Attenuates Neuroinflammation and Cognitive Dysfunction

Roy, S. M., Minasov, G., Arancio, O., Chico, L. W., Van Eldik, L. J., Anderson, W. F., Pelletier, J. C. & Watterson, D. M., Jun 13 2019, In : Journal of Medicinal Chemistry. 62, 11, p. 5298-5311 14 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
1 Scopus citations
Open Access
2 Scopus citations

Calmodulin mutations and life-threatening cardiac arrhythmias: Insights from the International Calmodulinopathy Registry

Crotti, L., Spazzolini, C., Tester, D. J., Ghidoni, A., Baruteau, A. E., Beckmann, B. M., Behr, E. R., Bennett, J. S., Bezzina, C. R., Bhuiyan, Z. A., Celiker, A., Cerrone, M., Dagradi, F., De Ferrari, G. M., Etheridge, S. P., Fatah, M., Garcia-Pavia, P., Al-Ghamdi, S., Hamilton, R. M., Al-Hassnan, Z. N. & 21 others, Horie, M., Jimenez-Jaimez, J., Kanter, R. J., Kaski, J. P., Kotta, M. C., Lahrouchi, N., Makita, N., Norrish, G., Odland, H. H., Ohno, S., Papagiannis, J., Parati, G., Sekarski, N., Tveten, K., Vatta, M., Webster, G., Wilde, A. A. M., Wojciak, J., George, A. L., Ackerman, M. J. & Schwartz, P. J., Sep 14 2019, In : European heart journal. 40, 35, p. 2964-2975A

Research output: Contribution to journalArticle

15 Scopus citations

Cardiac Evaluation of Children With a Family History of Sudden Death

Webster, G., Olson, R., Schoppen, Z. J., Giancola, N., Balmert, L. C., Cherny, S. & George, A. L., Aug 13 2019, In : Journal of the American College of Cardiology. 74, 6, p. 759-770 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Cardiovascular Pharmacogenomics: Does It Matter if You're Black or White?

De, T., Sehwan Park, C. & Perera, M. A., Jan 6 2019, In : Annual Review of Pharmacology and Toxicology. 59, p. 577-603 27 p.

Research output: Contribution to journalReview article

3 Scopus citations