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2020

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 : The Journal of general physiology. 152, 3

Research output: Contribution to journalArticle

Open Access

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., Jan 1 2020, (Accepted/In press) In : Human mutation. 41, 6, p. 1138-1144 7 p.

Research output: Contribution to journalArticle

Open Access

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

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., Jan 1 2020, (Accepted/In press) In : Clinical Pharmacology in Drug Development.

Research output: Contribution to journalArticle

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

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

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

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

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

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 : The Journal of general physiology. 152, 1

Research output: Contribution to journalArticle

Open Access

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
1 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

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
3 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 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
2 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

11 Scopus citations

Cardiac Evaluation of Children With a Family History of Sudden Death

Webster, R. G., Olson, R., Schoppen, Z. J., Giancola, N., Balmert, L. C., Cherny, S. & George Jr, 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

Chronic nicotine exposure alters the neurophysiology of habenulo-interpeduncular circuitry x

Arvin, M. C., Jin, X. T., Yan, Y., Wang, Y., Ramsey, M. D., Kim, V. J., Beckley, N. A., Henry, B. A. & Drenan, R. M., May 29 2019, In : Journal of Neuroscience. 39, 22, p. 4268-4281 14 p.

Research output: Contribution to journalArticle

2 Scopus citations

CRAC channels regulate astrocyte Ca2+ signaling and gliotransmitter release to modulate hippocampal GABAergic transmission

Toth, A. B., Hori, K., Novakovic, M. M., Bernstein, N. G., Lambot, L. & Prakriya, M., May 21 2019, In : Science Signaling. 12, 582, aaw5450.

Research output: Contribution to journalArticle

2 Scopus citations

Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective

Aubert, G., Barefield, D. Y., Demonbreun, A. R., Ramratnam, M., Fallon, K. S., Warner, J. L., Rossi, A. E., Hadhazy, M., Makielski, J. C. & McNally, E. M., Apr 1 2019, In : JACC: Basic to Translational Science. 4, 2, p. 251-268 18 p.

Research output: Contribution to journalArticle

Open Access

Development of Tetrahydroindazole-Based Potent and Selective Sigma-2 Receptor Ligands

Iyamu, I. D., Lv, W., Malik, N., Mishra, R. K. & Schiltz, G. E., Jul 3 2019, In : ChemMedChem. 14, 13, p. 1248-1256 9 p.

Research output: Contribution to journalArticle

Differences in Warfarin Pharmacodynamics and Predictors of Response Among Three Racial Populations

Ohara, M., Suzuki, Y., Shinohara, S., Gong, I. Y., Schmerk, C. L., Tirona, R. G., Schwarz, U. I., Wen, M. S., Lee, M. T. M., Mihara, K., Nutescu, E. A., Perera, M., Cavallari, L. H., Kim, R. B. & Takahashi, H., Aug 1 2019, In : Clinical Pharmacokinetics. 58, 8, p. 1077-1089 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Discovery of a novel class of potent and selective tetrahydroindazole-based sigma-1 receptor ligands

Iyamu, I. D., Lv, W., Malik, N., Mishra, R. K. & Schiltz, G. E., May 1 2019, In : Bioorganic and Medicinal Chemistry. 27, 9, p. 1824-1835 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Discovery of covalent enzyme inhibitors using virtual docking of covalent fragments

Chowdhury, S. R., Kennedy, S., Zhu, K., Mishra, R., Chuong, P., Nguyen, A. U., Kathman, S. G. & Statsyuk, A. V., Jan 1 2019, In : Bioorganic and Medicinal Chemistry Letters. 29, 1, p. 36-39 4 p.

Research output: Contribution to journalArticle

4 Scopus citations

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

Kim, E. Y., Barefield, D. Y., Vo, A. H., Gacita, A. M., Schuster, E. J., Wyatt, E. J., Davis, J. L., Dong, B., Sun, C., Page, P., Dellefave-Castillo, L., Demonbreun, A., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Dusp6 is a genetic modifier of growth through enhanced ERK activity

Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F. & McNally, E. M., Jan 15 2019, In : Human molecular genetics. 28, 2, p. 279-289 11 p.

Research output: Contribution to journalArticle

1 Scopus citations
Open Access

Gene editing vectors for studying nicotinic acetylcholine receptors in cholinergic transmission

Peng, C., Yan, Y., Kim, V. J., Engle, S. E., Berry, J. N., McIntosh, J. M., Neve, R. L. & Drenan, R. M., Aug 1 2019, In : European Journal of Neuroscience. 50, 3, p. 2224-2238 15 p.

Research output: Contribution to journalArticle

1 Scopus citations

Gene expression profiling in a mouse model of Dravet syndrome

Hawkins, N. A., Calhoun, J. D., Huffman, A. M. & Kearney, J. A., Jan 2019, In : Experimental Neurology. 311, p. 247-256 10 p.

Research output: Contribution to journalArticle

5 Scopus citations

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., Jan 1 2019, (Accepted/In press) In : Clinical pharmacology and therapeutics.

Research output: Contribution to journalArticle

1 Scopus citations

Genetic knockout of myosin light chain kinase (MLCK210) prevents cerebral microhemorrhages and attenuates neuroinflammation in a mouse model of vascular cognitive impairment and dementia

Braun, D. J., Bachstetter, A. D., Sudduth, T. L., Wilcock, D. M., Watterson, D. M. & Van Eldik, L. J., Oct 1 2019, In : GeroScience. 41, 5, p. 671-679 9 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Genetic Mosaicism in Calmodulinopathy

Wren, L. M., Jiménez-Jáimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., Kaski, J. P., Crotti, L., Perin, F., Monserrat, L., Burridge, P. W., Schwartz, P. J., Chazin, W. J., Bhuiyan, Z. A. & 1 others, George, A. L., Sep 1 2019, In : Circulation: Genomic and Precision Medicine. 12, 9, p. 375-385 11 p., e002581.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Wellcome Trust Case Control Consortium, Cross-Disorder Group of the Psychiatric Genomics Consortium, 23andMe Research Team & Psychosis Endophenotypes International Consortium, Dec 12 2019, In : Cell. 179, 7, p. 1469-1482.e11

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.

Research output: Contribution to journalArticle

2 Scopus citations

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

Van Tienen, F., Zelissen, R., Timmer, E., Van Gisbergen, M., Lindsey, P., Quattrocelli, M., Sampaolesi, M., Mulder-Den Hartog, E., De Coo, I. & Smeets, H., Dec 21 2019, In : Stem Cell Research and Therapy. 10, 1, 405.

Research output: Contribution to journalArticle

Open Access

Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans

Park, C. S., De, T., Xu, Y., Zhong, Y., Smithberger, E., Alarcon, C., Gamazon, E. R. & Perera, M. A., Dec 1 2019, In : npj Genomic Medicine. 4, 1, 29.

Research output: Contribution to journalArticle

Open Access

Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network

Hellwege, J. N., Stallings, S., Torstenson, E. S., Carroll, R., Borthwick, K. M., Brilliant, M. H., Crosslin, D., Gordon, A. S., Hripcsak, G., Jarvik, G. P., Linneman, J. G., Devi, P., Peissig, P. L., Sleiman, P. A. M., Hakonarson, H., Ritchie, M. D., Verma, S. S., Shang, N., Denny, J. C., Roden, D. M. & 2 others, Velez Edwards, D. R. & Edwards, T. L., Dec 1 2019, In : Scientific reports. 9, 1, 6077.

Research output: Contribution to journalArticle

Open Access

Homophilic CD44 interactions mediate tumor cell aggregation and polyclonal metastasis in patient-derived breast cancer models

Liu, X., Taftaf, R., Kawaguchi, M., Chang, Y. F., Chen, W., Entenberg, D., Zhang, Y., Gerratana, L., Huang, S., Patel, D. B., Tsui, E., Adorno-Cruz, V., Chirieleison, S. M., Cao, Y., Harney, A. S., Patel, S., Patsialou, A., Shen, Y., Avril, S., Gilmore, H. L. & 5 others, Lathia, J. D., Abbott, D. W., Cristofanilli, M., Condeelis, J. S. & Liu, H., Jan 2019, In : Cancer discovery. 9, 1, p. 96-113 18 p.

Research output: Contribution to journalArticle

31 Scopus citations

ImmGen report: sexual dimorphism in the immune system transcriptome

Gal-Oz, S. T., Maier, B., Yoshida, H., Seddu, K., Elbaz, N., Czysz, C., Zuk, O., Stranger, B. E., Ner-Gaon, H. & Shay, T., Dec 1 2019, In : Nature communications. 10, 1, 4295.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
11 Scopus citations

Late onset heart failure after childhood chemotherapy

Hilfiker-Kleiner, D., Ardehali, H., Fischmeister, R., Burridge, P., Hirsch, E. & Lyon, A. R., Mar 7 2019, In : European heart journal. 40, 10, p. 798-800 3 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

MMP-9-induced increase in intestinal epithelial tight permeability is mediated by p38 kinase signaling pathway activation of MLCK gene

Al-Sadi, R., Youssef, M., Rawat, M., Guo, S., Dokladny, K., Haque, M., Watterson, M. D. & Ma, T. Y., Feb 2019, In : American Journal of Physiology - Gastrointestinal and Liver Physiology. 316, 2, p. G278-G290

Research output: Contribution to journalArticle

1 Scopus citations

Modeling MEK4 Kinase Inhibitors through Perturbed Electrostatic Potential (ESP) Charges

Mishra, R. K., Deibler, K. K., Clutter, M. R., Vagadia, P. P., O'Connor, M., Schiltz, G. E., Bergan, R. & Scheidt, K. A., Jan 1 2019, (Accepted/In press) In : Journal of Chemical Information and Modeling.

Research output: Contribution to journalArticle

1 Scopus citations

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy

Zelikovich, A. S., Quattrocelli, M., Salamone, I. M., Kuntz, N. L. & McNally, E. M., Dec 1 2019, In : Scientific reports. 9, 1, 5770.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations