• 23371 Citations
1978 …2020

Research output per year

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Research Output

2020

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
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

2 Scopus citations

Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy

Adney, S. K., Millichap, J. J., DeKeyser, J. M., Abramova, T., Thompson, C. H. & George, A. L., Sep 1 2020, In : Annals of clinical and translational neurology. 7, 9, p. 1488-1501 14 p.

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., Sep 1 2020, In : Clinical and Translational Science. 13, 5, p. 941-949 9 p.

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

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

Pharmacogenomics in pregnancy

Betcher, H. K. & George, A. L., Apr 2020, In : Seminars in Perinatology. 44, 3, 151222.

Research output: Contribution to journalReview article

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 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

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

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

16 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
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
4 Scopus citations

Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1

Kroncke, B. M., Mendenhall, J., Smith, D. K., Sanders, C. R., Capra, J. A., George, A. L., Blume, J. D., Meiler, J. & Roden, D. M., 2019, In : Computational and Structural Biotechnology Journal. 17, p. 206-214 9 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Reply: Familial Hypercholesterolemia Causes Sudden Death

Webster, G., Olson, R., Balmert, L. C., Cherny, S. & George, A. L., Dec 10 2019, In : Journal of the American College of Cardiology. 74, 23, p. 2952-2953 2 p.

Research output: Contribution to journalLetter

Spectrum of KV2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

Kang, S. K., Vanoye, C. G., Misra, S. N., Echevarria, D. M., Calhoun, J. D., O'Connor, J. B., Fabre, K. L., McKnight, D., Demmer, L., Goldenberg, P., Grote, L. E., Thiffault, I., Saunders, C., Strauss, K. A., Torkamani, A., van der Smagt, J., van Gassen, K., Carson, R. P., Diaz, J., Leon, E. & 12 others, Jacher, J. E., Hannibal, M. C., Litwin, J., Friedman, N. R., Schreiber, A., Lynch, B., Poduri, A., Marsh, E. D., Goldberg, E. M., Millichap, J. J., George, A. L. & Kearney, J. A., Dec 1 2019, In : Annals of neurology. 86, 6, p. 899-912 14 p.

Research output: Contribution to journalArticle

5 Scopus citations

The CaMKII inhibitor KN93-calmodulin interaction and implications for calmodulin tuning of NaV1.5 and RyR2 function

Johnson, C. N., Pattanayek, R., Potet, F., Rebbeck, R. T., Blackwell, D. J., Nikolaienko, R., Sequeira, V., Le Meur, R., Radwański, P. B., Davis, J. P., Zima, A. V., Cornea, R. L., Damo, S. M., Györke, S., George, A. L. & Knollmann, B. C., Sep 2019, In : Cell Calcium. 82, 102063.

Research output: Contribution to journalArticle

4 Scopus citations

The importance of being selective

George, A. L., Feb 2019, In : Heart rhythm. 16, 2, p. 279-280 2 p.

Research output: Contribution to journalEditorial

1 Scopus citations

Upgraded molecular models of the human KCNQ1 potassium channel

Kuenze, G., Duran, A. M., Woods, H., Brewer, K. R., McDonald, E. F., Vanoye, C. G., George, A. L., Sanders, C. R. & Meiler, J., Sep 1 2019, In : PloS one. 14, 9, e0220415.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
2018

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

Johnson, C. N., Potet, F., Thompson, M. K., Kroncke, B. M., Glazer, A. M., Voehler, M. W., Knollmann, B. C., George, A. L. & Chazin, W. J., May 1 2018, In : Structure. 26, 5, p. 683-694.e3

Research output: Contribution to journalArticle

17 Scopus citations

Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update

Phillips, E. J., Sukasem, C., Whirl-Carrillo, M., Müller, D. J., Dunnenberger, H. M., Chantratita, W., Goldspiel, B., Chen, Y. T., Carleton, B. C., George, A. L., Mushiroda, T., Klein, T., Gammal, R. S. & Pirmohamed, M., Apr 2018, In : Clinical pharmacology and therapeutics. 103, 4, p. 574-581 8 p.

Research output: Contribution to journalArticle

50 Scopus citations

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Simmons, C. Q., Thompson, C. H., Cawthon, B. E., Westlake, G., Swoboda, K. J., Kiskinis, E., Ess, K. C. & George, A. L., Jul 2018, In : Neurobiology of Disease. 115, p. 29-38 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

Vanoye, C. G., Desai, R. R., Fabre, K. L., Gallagher, S. L., Potet, F., DeKeyser, J. M., Macaya, D., Meiler, J., Sanders, C. R. & George, A. L., Nov 1 2018, In : Circulation. Genomic and precision medicine. 11, 11, p. e002345

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death

Tuveng, J. M., Berling, B. M., Bunford, G., Vanoye, C. G., Welch, R. C., Leren, T. P., George, A. L. & Rognum, T. O., Sep 1 2018, In : Forensic Science, Medicine, and Pathology. 14, 3, p. 367-371 5 p.

Research output: Contribution to journalArticle

Mechanisms in Heritable Sodium Channel Diseases

Nguyen, T. P. & George, A. L., Jan 1 2018, Cardiac Electrophysiology: From Cell to Bedside: Seventh Edition. Elsevier, p. 473-482 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

Huang, H., Kuenze, G., Smith, J. A., Taylor, K. C., Duran, A. M., Hadziselimovic, A., Meiler, J., Vanoye, C. G., George, A. L. & Sanders, C. R., Mar 7 2018, In : Science Advances. 4, 3, eaar2631.

Research output: Contribution to journalArticle

24 Scopus citations

Modifier genes for sudden cardiac death

Schwartz, P. J., Crotti, L. & George, A. L., Nov 21 2018, In : European heart journal. 39, 44, p. 3925-3931 7 p.

Research output: Contribution to journalReview article

13 Scopus citations

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

Chai, S., Wan, X., Ramirez-Navarro, A., Tesar, P. J., Kaufman, E. S., Ficker, E., George, A. L. & Deschênes, I., Mar 1 2018, In : Journal of Clinical Investigation. 128, 3, p. 1043-1056 14 p.

Research output: Contribution to journalArticle

14 Scopus citations

Progress in Understanding and Treating SCN2A-Mediated Disorders

Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., George, A. L., Hipp, J. F., Khwaja, O., Kiskinis, E., Lal, D., Malhotra, D., Millichap, J. J., Otis, T. S., Petrou, S., Pitt, G. & 5 others, Schust, L. F., Taylor, C. M., Tjernagel, J., Spiro, J. E. & Bender, K. J., Jul 2018, In : Trends in Neurosciences. 41, 7, p. 442-456 15 p.

Research output: Contribution to journalReview article

52 Scopus citations

SCN1A variants associated with sudden infant death syndrome

Brownstein, C. A., Goldstein, R. D., Thompson, C. H., Haynes, R. L., Giles, E., Sheidley, B., Bainbridge, M., Haas, E. A., Mena, O. J., Lucas, J., Schaber, B., Holm, I. A., George, A. L., Kinney, H. C. & Poduri, A. H., Apr 2018, In : Epilepsia. 59, 4, p. e56-e62

Research output: Contribution to journalArticle

9 Scopus citations

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

Baker, E. M., Thompson, C. H., Hawkins, N. A., Wagnon, J. L., Wengert, E. R., Patel, M. K., George, A. L., Meisler, M. H. & Kearney, J. A., Jun 2018, In : Epilepsia. 59, 6, p. 1166-1176 11 p.

Research output: Contribution to journalArticle

18 Scopus citations
2017

Allelic complexity in long QT syndrome: A family-case study

Zullo, A., Frisso, G., Detta, N., Sarubbi, B., Romeo, E., Cordella, A., Vanoye, C. G., Calabrò, R., George, A. L. & Salvatore, F., Aug 2017, In : International journal of molecular sciences. 18, 8, 1633.

Research output: Contribution to journalArticle

3 Scopus citations

Azithromycin Causes a Novel Proarrhythmic Syndrome

Yang, Z., Prinsen, J. K., Bersell, K. R., Shen, W., Yermalitskaya, L., Sidorova, T., Luis, P. B., Hall, L., Zhang, W., Du, L., Milne, G., Tucker, P., George, A. L., Campbell, C. M., Pickett, R. A., Shaffer, C. M., Chopra, N., Yang, T., Knollmann, B. C., Roden, D. M. & 1 others, Murray, K. T., Apr 1 2017, In : Circulation: Arrhythmia and Electrophysiology. 10, 4, e003560.

Research output: Contribution to journalArticle

23 Scopus citations
11 Scopus citations

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes

Rocchetti, M., Sala, L., Dreizehnter, L., Crotti, L., Sinnecker, D., Mura, M., Pane, L. S., Altomare, C., Torre, E., Mostacciuolo, G., Severi, S., Porta, A., De Ferrari, G. M., George, A. L., Schwartz, P. J., Gnecchi, M., Moretti, A. & Zaza, A., Apr 1 2017, In : Cardiovascular research. 113, 5, p. 531-541 11 p.

Research output: Contribution to journalArticle

50 Scopus citations

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

Heinig, M., Adriaens, M. E., Schafer, S., van Deutekom, H. W. M., Lodder, E. M., Ware, J. S., Schneider, V., Felkin, L. E., Creemers, E. E., Meder, B., Katus, H. A., Rühle, F., Stoll, M., Cambien, F., Villard, E., Charron, P., Varro, A., Bishopric, N. H., George, A. L., dos Remedios, C. & 11 others, Moreno-Moral, A., Pesce, F., Bauerfeind, A., Rüschendorf, F., Rintisch, C., Petretto, E., Barton, P. J., Cook, S. A., Pinto, Y. M., Bezzina, C. R. & Hubner, N., Sep 14 2017, In : Genome biology. 18, 1, 170.

Research output: Contribution to journalArticle

25 Scopus citations

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance

Li, B., Mendenhall, J. L., Kroncke, B. M., Taylor, K. C., Huang, H., Smith, D. K., Vanoye, C. G., Blume, J. D., George, A. L., Sanders, C. R. & Meiler, J., Oct 1 2017, In : Circulation: Cardiovascular Genetics. 10, 5, e001754.

Research output: Contribution to journalArticle

10 Scopus citations

Research conference summary from the 2014 International Task Force on ATP1A3-related disorders

Rosewich, H., Sweney, M. T., Debrosse, S., Ess, K., Ozelius, L., Andermann, E., Andermann, F., Andrasco, G., Belgrade, A., Brashear, A., Ciccodicola, S., Egan, L., George, A. L., Lewelt, A., Magelby, J., Merida, M., Newcomb, T., Platt, V., Poncelin, D., Reyna, S. & 7 others, Sasaki, M., De Menezes, M. S., Sweadner, K., Viollet, L., Zupanc, M., Silver, K. & Swoboda, K., 2017, In : Neurology: Genetics. 3, 2, e139.

Research output: Contribution to journalArticle

18 Scopus citations

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability

Huang, J., Vanoye, C. G., Cutts, A., Goldberg, Y. P., Dib-Hajj, S. D., Cohen, C. J., Waxman, S. G. & George, A. L., Jun 30 2017, In : Journal of Clinical Investigation. 127, 7, p. 2805-2814 10 p.

Research output: Contribution to journalArticle

27 Scopus citations

Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines

Chhibber, A., French, C. E., Yee, S. W., Gamazon, E. R., Theusch, E., Qin, X., Webb, A., Papp, A. C., Wang, A., Simmons, C. Q., Konkashbaev, A., Chaudhry, A. S., Mitchel, K., Stryke, D., Ferrin, T. E., Weiss, S. T., Kroetz, D. L., Sadee, W., Nickerson, D. A., Krauss, R. M. & 7 others, George, A. L., Schuetz, E. G., Medina, M. W., Cox, N. J., Scherer, S. E., Giacomini, K. M. & Brenner, S. E., Mar 1 2017, In : Pharmacogenomics Journal. 17, 2, p. 137-145 9 p.

Research output: Contribution to journalArticle

16 Scopus citations

Treatment of calmodulinopathy with verapamil

Webster, G., Schoppen, Z. J. & George, A. L., Jan 1 2017, In : BMJ case reports. 2017, bcr-2017-220568.

Research output: Contribution to journalArticle

3 Scopus citations

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome

Anderson, L. L., Hawkins, N. A., Thompson, C. H., Kearney, J. A. & George, A. L., Dec 1 2017, In : Scientific reports. 7, 1, 1682.

Research output: Contribution to journalArticle

30 Scopus citations
2016

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current

Yu, C. C., Ko, J. S., Ai, T., Tsai, W. C., Chen, Z., Rubart, M., Vatta, M., Everett, T. H., George, A. L. & Chen, P. S., Aug 1 2016, In : Heart rhythm. 13, 8, p. 1716-1723 8 p.

Research output: Contribution to journalArticle

10 Scopus citations
6 Scopus citations

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

Pipilas, D. C., Johnson, C. N., Webster, G., Schlaepfer, J., Fellmann, F., Sekarski, N., Wren, L. M., Ogorodnik, K. V., Chazin, D. M., Chazin, W. J., Crotti, L., Bhuiyan, Z. A. & George, A. L., Oct 1 2016, In : Heart rhythm. 13, 10, p. 2012-2019 8 p.

Research output: Contribution to journalArticle

24 Scopus citations