Faculty Appointments
Assistant Professor of Medicine
Education
Ph.D., Genetics, Genomics, and Development, University of California, Berkeley, CaliforniaB.S., Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts
Office Address
1225F Medical Research Building IV (Light Hall entrance)
Nashville, TN 37232
Nashville, TN 37232
Research Description
I am a geneticist interested in understanding which mutations lead to Mendelian disease. I am especially interested in arrhythmia syndromes and other diseases caused by mutations in ion channel genes. A majority of variants found in patients are Variants of Uncertain Significance (VUS), which limits the utility of precision medicine. My lab uses high-throughput in vitro methods such as automated patch clamping and deep mutational scans to study hundreds to thousands of variants and decipher VUS's. We also study large patient cohorts to understand the impact of variants on disease. www.andrewglazerlab.com/
Research Keywords
genetics, arrhythmia, ion channel, high-throughput, sequencing, biobank
Publications
Yamamoto Y, Chua K, Staudt D, Ferrasse A, Kirillova A, De Jong HN, Floyd BJ, Cadisch C, Wiel L, Wang Q, O'Neill MJ, Tabet D, Goryznski JE, Huang Y, Bai F, Wilson RH, Sharma A, Tapales A, Agrawal R, Wheeler MT, Mercola M, MacRae CA, Roden DM, Roth FP, Glazer AM, Ashley EA, Parikh VN. Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy. Circulation [print-electronic]. 2026 Jul 7/12/2026; PMID: 42437345, DOI: 10.1161/CIRCULATIONAHA.125.075535, ISSN: 1524-4539.
O'Neill MJ, Yang T, Wada Y, Blair MA, Glazer AM. Chemical and genetic knockout identifies KCNQ2 as the principal background voltage-gated potassium current in human embryonic kidney 293 cells. Heart Rhythm [print-electronic]. 2026 Jul; 23(7): e1183-e1185-e1185. PMID: 41644077, PMCID: PMC12908142, PII: S1547-5271(26)00100-1, DOI: 10.1016/j.hrthm.2026.01.043, ISSN: 1556-3871.
Glazer AM, Tabet DR, Parikh VN, Kroncke BM, Cote AG, Yamamoto Y, Wang Q, Muhammad A, Lancaster MC, O'Neill MJ, Weile J, Yang T, Macrae CA, Ashley EA, Roth FP, Roden DM. Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine. Nat Rev Cardiol [print-electronic]. 2026 Mar; 23(3): 149-63. PMID: 40890511, PMCID: PMC12434709, PII: 10.1038/s41569-025-01201-7, DOI: 10.1038/s41569-025-01201-7, ISSN: 1759-5010.
Tabet DR, Coté AG, Lancaster MC, Weile J, Rayhan A, Fotiadou I, Kishore N, Li R, Kuang D, Knapp JJ, Carrero CS, Taverniti O, Axakova A, Castelli JMP, Islam MM, Sowlati-Hashjin S, Gandhi A, Maaieh R, Garton M, Matreyek K, Fowler DM, Bourbon M, Pfisterer SG, Glazer AM, Kroncke BM, Parikh VN, Ashley EA, Knowles JW, Claussnitzer M, Cirulli ET, Hegele RA, Roden DM, MacRae CA, Roth FP. The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR. Science [print-electronic]. 2026 Feb 2/19/2026; 391(6787): eady7186. PMID: 41166440, PMCID: PMC12726852, DOI: 10.1126/science.ady7186, ISSN: 1095-9203.
Dolder RE, Friedman CE, Loiben AM, Yang KC, Glazer AM. High-Throughput Methods for Variant Functional Assessment in Cardiac Disease. Circ Genom Precis Med [print-electronic]. 2026 Feb; 19(1): e005239. PMID: 41603018, PMCID: PMC12857764, DOI: 10.1161/CIRCGEN.125.005239, ISSN: 2574-8300.
O'Neill MJ, Ma JG, Aldridge JL, Solus JF, Harvey GR, Roberson PH, Barc J, Bezzina CR, Roden DM, Walsh R, Vandenberg JI, Glazer AM, Ng CA. Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome. Eur Heart J [print-electronic]. 2025 Nov 11/18/2025; PMID: 41251004, PMCID: PMC12678899, PII: 8326413, DOI: 10.1093/eurheartj/ehaf874, ISSN: 1522-9645.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Guidelines for releasing a variant effect predictor. Genome Biol. 2025 Apr 4/15/2025; 26(1): 97. PMID: 40234898, PMCID: PMC11998465, PII: 10.1186/s13059-025-03572-z, DOI: 10.1186/s13059-025-03572-z, ISSN: 1474-760X.
Patel N, Shen A, Wada Y, Blair M, Mitchell D, Vanags L, Woo S, Ku M, Dauda K, Morris W, Yang M, Knollmann BC, Salem JE, Glazer AM, Kroncke BM. A high-performance extracellular field potential analyzer for iPSC-derived cardiomyocytes. Sci Rep. 2025 Mar 3/15/2025; 15(1): 8948. PMID: 40089568, PMCID: PMC11910505, PII: 10.1038/s41598-025-88946-w, DOI: 10.1038/s41598-025-88946-w, ISSN: 2045-2322.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification. Circulation [print-electronic]. 2024 Dec 12/3/2024; 150(23): 1869-81. PMID: 39315434, PMCID: PMC11611689, DOI: 10.1161/CIRCULATIONAHA.124.069828, ISSN: 1524-4539.
O'Neill MJ, Yang T, Laudeman J, Calandranis ME, Harvey ML, Solus JF, Roden DM, Glazer AM. ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants. Nat Commun. 2024 Sep 9/27/2024; 15(1): 8320. PMID: 39333091, PMCID: PMC11437130, PII: 10.1038/s41467-024-52474-4, DOI: 10.1038/s41467-024-52474-4, ISSN: 2041-1723.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants. Circ Genom Precis Med [print-electronic]. 2024 Aug; 17(4): e004569. PMID: 38953211, PMCID: PMC11335442, DOI: 10.1161/CIRCGEN.124.004569, ISSN: 2574-8300.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Daniel ZA, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM. High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology. Genome Med. 2024 May 5/30/2024; 16(1): 73. PMID: 38816749, PMCID: PMC11138074, PII: 10.1186/s13073-024-01340-5, DOI: 10.1186/s13073-024-01340-5, ISSN: 1756-994X.
Wada Y, Wang L, Hall LD, Yang T, Short LL, Solus JF, Glazer AM, Roden DM. The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block. Cardiovasc Res. 2024 May 5/29/2024; 120(7): 735-44. PMID: 38442735, PMCID: PMC11135641, PII: 7621368, DOI: 10.1093/cvr/cvae042, ISSN: 1755-3245.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Minimum information and guidelines for reporting a multiplexed assay of variant effect. Genome Biol. 2024 Apr 4/19/2024; 25(1): 100. PMID: 38641812, PMCID: PMC11027375, PII: 10.1186/s13059-024-03223-9, DOI: 10.1186/s13059-024-03223-9, ISSN: 1474-760X.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant. Heart Rhythm [print-electronic]. 2023 Aug; 20(8): 1158-66. PMID: 37164047, PMCID: PMC10530503, PII: S1547-5271(23)02219-1, DOI: 10.1016/j.hrthm.2023.05.006, ISSN: 1556-3871.
Bersell KR, Yang T, Mosley JD, Glazer AM, Hale AT, Kryshtal DO, Kim K, Steimle JD, Brown JD, Salem JE, Campbell CC, Hong CC, Wells QS, Johnson AN, Short L, Blair MA, Behr ER, Petropoulou E, Jamshidi Y, Benson MD, Keyes MJ, Ngo D, Vasan RS, Yang Q, Gerszten RE, Shaffer C, Parikh S, Sheng Q, Kannankeril PJ, Moskowitz IP, York JD, Wang TJ, Knollmann BC, Roden DM. Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization. Circulation [print-electronic]. 2023 Mar 3/7/2023; 147(10): 824-40. PMID: 36524479, PMCID: PMC9992308, DOI: 10.1161/CIRCULATIONAHA.122.062193, ISSN: 1524-4539.
Floyd BJ, Weile J, Kannankeril PJ, Glazer AM, Reuter CM, MacRae CA, Ashley EA, Roden DM, Roth FP, Parikh VN. Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest. Circ Genom Precis Med [print-electronic]. 2023 Feb; 16(1): e003792. PMID: 36716194, PMCID: PMC9974880, DOI: 10.1161/CIRCGEN.122.003792, ISSN: 2574-8300.
Glazer AM. Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation. Curr Opin Genet Dev [print-electronic]. 2022 Dec; 77: 102004. PMID: 36368182, PMCID: PMC9743411, PII: S0959-437X(22)00119-8, DOI: 10.1016/j.gde.2022.102004, ISSN: 1879-0380.
O'Neill MJ, Wada Y, Hall LD, Mitchell DW, Glazer A, Roden DM. Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies. Circ Genom Precis Med [print-electronic]. 2022 Oct 10/5/2022; 101161CIRCGEN122003782. PMID: 36197721, DOI: 10.1161/CIRCGEN.122.003782, ISSN: 2574-8300.
Yoneda ZT, Anderson KC, Ye F, Quintana JA, O'Neill MJ, Sims RA, Sun L, Glazer AM, Davogustto G, El-Harasis M, Laws JL, Saldivar BN, Crawford DM, Stricker T, Wells Q, Darbar D, Michaud GF, Stevenson LW, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2022 Jul 7/1/2022; 7(7): 733-41. PMID: 35544069, PMCID: PMC9096694, PII: 2792049, DOI: 10.1001/jamacardio.2022.0810, ISSN: 2380-6591.
O'Neill MJ, Muhammad A, Li B, Wada Y, Hall L, Solus JF, Short L, Roden DM, Glazer AM. Dominant negative effects of SCN5A missense variants. Genet Med [print-electronic]. 2022 Jun; 24(6): 1238-48. PMID: 35305865, PMCID: PMC9262418, PII: S1098-3600(22)00656-6, DOI: 10.1016/j.gim.2022.02.010, ISSN: 1530-0366.
Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, , Denny J, Wei WQ, George AL, Shoemaker MB, Roden DM. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation [print-electronic]. 2022 Mar 3/22/2022; 145(12): 877-91. PMID: 34930020, PMCID: PMC8940719, DOI: 10.1161/CIRCULATIONAHA.121.055562, ISSN: 1524-4539.
Gulsevin A, Glazer AM, Shields T, Kroncke BM, Roden DM, Meiler J. Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5. Int J Mol Sci. 2022 Feb 2/17/2022; 23(4): PMID: 35216338, PMCID: PMC8878851, PII: ijms23042225, DOI: 10.3390/ijms23042225, ISSN: 1422-0067.
Wada Y, Yang T, Shaffer CM, Daniel LL, Glazer AM, Davogustto GE, Lowery BD, Farber-Eger EH, Wells QS, Roden DM. Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias. Circulation [print-electronic]. 2022 Jan 1/25/2022; 145(4): 299-308. PMID: 34994586, PMCID: PMC8852297, DOI: 10.1161/CIRCULATIONAHA.121.054883, ISSN: 1524-4539.
Yoneda ZT, Anderson KC, Quintana JA, O'Neill MJ, Sims RA, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Ye F, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2021 Dec 12/1/2021; 6(12): 1371-9. PMID: 34495297, PMCID: PMC8427496, PII: 2783693, DOI: 10.1001/jamacardio.2021.3370, ISSN: 2380-6591.
Papagiannis J, Yang T, Glazer AM, Tisma-Dupanovic S, Avramidis D, Kannankeril PJ, Viskin S, Walsh EP, Roden DM. Incessant atrial and ventricular tachycardias associated with an SCN5A mutation. HeartRhythm Case Rep. 2021 Dec; 7(12): 806-11. PMID: 34987964, PMCID: PMC8695285, PII: S2214-0271(21)00172-X, DOI: 10.1016/j.hrcr.2021.08.013, ISSN: 2214-0271.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. Circ Genom Precis Med [print-electronic]. 2021 Aug; 14(4): e003289. PMID: 34309407, PMCID: PMC8373797, DOI: 10.1161/CIRCGEN.120.003289, ISSN: 2574-8300.
Salem JE, Yang T, Moslehi JJ, Waintraub X, Gandjbakhch E, Bachelot A, Hidden-Lucet F, Hulot JS, Knollmann BC, Lebrun-Vignes B, Funck-Brentano C, Glazer AM, Roden DM. Androgenic effects on ventricular repolarization: A translational study from the international pharmacovigilance database to iPSC-cardiomyocytes. Ann Endocrinol (Paris) [print-electronic]. 2021 Jun; 82(3-4): 132-3. PMID: 32171470, PII: S0003-4266(20)30031-7, DOI: 10.1016/j.ando.2020.02.008, ISSN: 2213-3941.
Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR, . KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine. Circ Genom Precis Med [print-electronic]. 2020 Dec; 13(6): e003133. PMID: 33141630, PMCID: PMC7748050, DOI: 10.1161/CIRCGEN.120.003133, ISSN: 2574-8300.
Kozek KA, Glazer AM, Ng CA, Blackwell D, Egly CL, Vanags LR, Blair M, Mitchell D, Matreyek KA, Fowler DM, Knollmann BC, Vandenberg JI, Roden DM, Kroncke BM. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1. Heart Rhythm [print-electronic]. 2020 Dec; 17(12): 2180-9. PMID: 32522694, PMCID: PMC7704534, PII: S1547-5271(20)30542-7, DOI: 10.1016/j.hrthm.2020.05.041, ISSN: 1556-3871.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. High-Throughput Reclassification of SCN5A Variants. Am J Hum Genet [print-electronic]. 2020 Jul 7/2/2020; 107(1): 111-23. PMID: 32533946, PMCID: PMC7332654, PII: S0002-9297(20)30162-2, DOI: 10.1016/j.ajhg.2020.05.015, ISSN: 1537-6605.
Kroncke BM, Smith DK, Zuo Y, Glazer AM, Roden DM, Blume JD. A Bayesian method to estimate variant-induced disease penetrance. PLoS Genet. 2020 Jun; 16(6): e1008862. PMID: 32569262, PMCID: PMC7347235, PII: PGENETICS-D-19-01892, DOI: 10.1371/journal.pgen.1008862, ISSN: 1553-7404.
Glazer AM, Kroncke BM, Matreyek KA, Yang T, Wada Y, Shields T, Salem JE, Fowler DM, Roden DM. Deep Mutational Scan of an SCN5A Voltage Sensor. Circ Genom Precis Med [print-electronic]. 2020 Feb; 13(1): e002786. PMID: 31928070, PMCID: PMC7031040, DOI: 10.1161/CIRCGEN.119.002786, ISSN: 2574-8300.
Chavali NV, Kryshtal DO, Parikh SS, Wang L, Glazer AM, Blackwell DJ, Kroncke BM, Shoemaker MB, Knollmann BC. Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome. Heart Rhythm [print-electronic]. 2019 Nov; 16(11): 1686-95. PMID: 31004778, PMCID: PMC6935564, PII: S1547-5271(19)30360-1, DOI: 10.1016/j.hrthm.2019.04.031, ISSN: 1556-3871.
Salem JE, Yang T, Moslehi JJ, Waintraub X, Gandjbakhch E, Bachelot A, Hidden-Lucet F, Hulot JS, Knollmann BC, Lebrun-Vignes B, Funck-Brentano C, Glazer AM, Roden DM. Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes. Circulation [print-electronic]. 2019 Sep 9/24/2019; 140(13): 1070-80. PMID: 31378084, PMCID: PMC6756939, DOI: 10.1161/CIRCULATIONAHA.119.040162, ISSN: 1524-4539.
Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA Cardiol. 2019 Feb 2/1/2019; 4(2): 136-43. PMID: 30673079, PMCID: PMC6439628, PII: 2722685, DOI: 10.1001/jamacardio.2018.4615, ISSN: 2380-6591.
Grouthier V, Lebrun-Vignes B, Glazer AM, Touraine P, Funck-Brentano C, Pariente A, Courtillot C, Bachelot A, Roden DM, Moslehi JJ, Salem JE. Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors. Heart [print-electronic]. 2018 Nov; 104(22): 1859-63. PMID: 29720397, PMCID: PMC8022857, PII: heartjnl-2017-312934, DOI: 10.1136/heartjnl-2017-312934, ISSN: 1468-201X.
Roden DM, Glazer AM, Kroncke B. Arrhythmia genetics: Not dark and lite, but 50 shades of gray [editorial]. Heart Rhythm [print-electronic]. 2018 Aug; 15(8): 1231-2. PMID: 29709575, PMCID: PMC6590670, PII: S1547-5271(18)30393-X, DOI: 10.1016/j.hrthm.2018.04.031, ISSN: 1556-3871.
Salem JE, Waintraub X, Courtillot C, Shaffer CM, Gandjbakhch E, Maupain C, Moslehi JJ, Badilini F, Haroche J, Gougis P, Fressart V, Glazer AM, Hidden-Lucet F, Touraine P, Lebrun-Vignes B, Roden DM, Bachelot A, Funck-Brentano C. Hypogonadism as a Reversible Cause of Torsades de Pointes in Men [letter]. Circulation. 2018 Jul 7/3/2018; 138(1): 110-3. PMID: 29967236, PMCID: PMC6053686, PII: CIRCULATIONAHA.118.034282, DOI: 10.1161/CIRCULATIONAHA.118.034282, ISSN: 1524-4539.
Kroncke BM, Glazer AM, Smith DK, Blume JD, Roden DM. SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance. Circ Genom Precis Med. 2018 May; 11(5): e002095. PMID: 29728395, PMCID: PMC5941942, PII: CIRCGEN.118.002095, DOI: 10.1161/CIRCGEN.118.002095, ISSN: 2574-8300.
Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL, Chazin WJ. A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel. Structure [print-electronic]. 2018 May 5/1/2018; 26(5): 683-694.e3. PMID: 29606593, PMCID: PMC5932218, PII: S0969-2126(18)30085-6, DOI: 10.1016/j.str.2018.03.005, ISSN: 1878-4186.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 Mar 3/16/2018; 359(6381): 1233-9. PMID: 29590070, PMCID: PMC5959723, PII: 359/6381/1233, DOI: 10.1126/science.aal4043, ISSN: 1095-9203.
Wells QS, Veatch OJ, Fessel JP, Joon AY, Levinson RT, Mosley JD, Held EP, Lindsay CS, Shaffer CM, Weeke PE, Glazer AM, Bersell KR, Van Driest SL, Karnes JH, Blair MA, Lagrone LW, Su YR, Bowton EA, Feng Z, Ky B, Lenihan DJ, Fisch MJ, Denny JC, Roden DM. Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults. Pharmacogenet Genomics. 2017 Jul; 27(7): 247-54. PMID: 28542097, PMCID: PMC5502740, DOI: 10.1097/FPC.0000000000000284, ISSN: 1744-6880.
Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Xu Y, Glazer AM, Mosley JD, Zhao S, Raychaudhuri S, Mallal S, Ye Z, Mayer JG, Brilliant MH, Hebbring SJ, Roden DM, Phillips EJ, Denny JC. Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Sci Transl Med. 2017 May 5/10/2017; 9(389): PMID: 28490672, PMCID: PMC5563969, PII: 9/389/eaai8708, DOI: 10.1126/scitranslmed.aai8708, ISSN: 1946-6242.
Karnes JH, Shaffer CM, Bastarache L, Gaudieri S, Glazer AM, Steiner HE, Mosley JD, Mallal S, Denny JC, Phillips EJ, Roden DM. Comparison of HLA allelic imputation programs. PLoS One. 2017; 12(2): e0172444. PMID: 28207879, PMCID: PMC5312875, PII: PONE-D-16-48785, DOI: 10.1371/journal.pone.0172444, ISSN: 1932-6203.
Assad TR, Hemnes AR, Larkin EK, Glazer AM, Xu M, Wells QS, Farber-Eger EH, Sheng Q, Shyr Y, Harrell FE, Newman JH, Brittain EL. Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension. J Am Coll Cardiol. 2016 Dec 12/13/2016; 68(23): 2525-36. PMID: 27931609, PMCID: PMC5157701, PII: S0735-1097(16)36493-2, DOI: 10.1016/j.jacc.2016.09.942, ISSN: 1558-3597.
O'Neill MJ, Yang T, Wada Y, Blair MA, Glazer AM. Chemical and genetic knockout identifies KCNQ2 as the principal background voltage-gated potassium current in human embryonic kidney 293 cells. Heart Rhythm [print-electronic]. 2026 Jul; 23(7): e1183-e1185-e1185. PMID: 41644077, PMCID: PMC12908142, PII: S1547-5271(26)00100-1, DOI: 10.1016/j.hrthm.2026.01.043, ISSN: 1556-3871.
Glazer AM, Tabet DR, Parikh VN, Kroncke BM, Cote AG, Yamamoto Y, Wang Q, Muhammad A, Lancaster MC, O'Neill MJ, Weile J, Yang T, Macrae CA, Ashley EA, Roth FP, Roden DM. Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine. Nat Rev Cardiol [print-electronic]. 2026 Mar; 23(3): 149-63. PMID: 40890511, PMCID: PMC12434709, PII: 10.1038/s41569-025-01201-7, DOI: 10.1038/s41569-025-01201-7, ISSN: 1759-5010.
Tabet DR, Coté AG, Lancaster MC, Weile J, Rayhan A, Fotiadou I, Kishore N, Li R, Kuang D, Knapp JJ, Carrero CS, Taverniti O, Axakova A, Castelli JMP, Islam MM, Sowlati-Hashjin S, Gandhi A, Maaieh R, Garton M, Matreyek K, Fowler DM, Bourbon M, Pfisterer SG, Glazer AM, Kroncke BM, Parikh VN, Ashley EA, Knowles JW, Claussnitzer M, Cirulli ET, Hegele RA, Roden DM, MacRae CA, Roth FP. The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR. Science [print-electronic]. 2026 Feb 2/19/2026; 391(6787): eady7186. PMID: 41166440, PMCID: PMC12726852, DOI: 10.1126/science.ady7186, ISSN: 1095-9203.
Dolder RE, Friedman CE, Loiben AM, Yang KC, Glazer AM. High-Throughput Methods for Variant Functional Assessment in Cardiac Disease. Circ Genom Precis Med [print-electronic]. 2026 Feb; 19(1): e005239. PMID: 41603018, PMCID: PMC12857764, DOI: 10.1161/CIRCGEN.125.005239, ISSN: 2574-8300.
O'Neill MJ, Ma JG, Aldridge JL, Solus JF, Harvey GR, Roberson PH, Barc J, Bezzina CR, Roden DM, Walsh R, Vandenberg JI, Glazer AM, Ng CA. Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome. Eur Heart J [print-electronic]. 2025 Nov 11/18/2025; PMID: 41251004, PMCID: PMC12678899, PII: 8326413, DOI: 10.1093/eurheartj/ehaf874, ISSN: 1522-9645.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Guidelines for releasing a variant effect predictor. Genome Biol. 2025 Apr 4/15/2025; 26(1): 97. PMID: 40234898, PMCID: PMC11998465, PII: 10.1186/s13059-025-03572-z, DOI: 10.1186/s13059-025-03572-z, ISSN: 1474-760X.
Patel N, Shen A, Wada Y, Blair M, Mitchell D, Vanags L, Woo S, Ku M, Dauda K, Morris W, Yang M, Knollmann BC, Salem JE, Glazer AM, Kroncke BM. A high-performance extracellular field potential analyzer for iPSC-derived cardiomyocytes. Sci Rep. 2025 Mar 3/15/2025; 15(1): 8948. PMID: 40089568, PMCID: PMC11910505, PII: 10.1038/s41598-025-88946-w, DOI: 10.1038/s41598-025-88946-w, ISSN: 2045-2322.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification. Circulation [print-electronic]. 2024 Dec 12/3/2024; 150(23): 1869-81. PMID: 39315434, PMCID: PMC11611689, DOI: 10.1161/CIRCULATIONAHA.124.069828, ISSN: 1524-4539.
O'Neill MJ, Yang T, Laudeman J, Calandranis ME, Harvey ML, Solus JF, Roden DM, Glazer AM. ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants. Nat Commun. 2024 Sep 9/27/2024; 15(1): 8320. PMID: 39333091, PMCID: PMC11437130, PII: 10.1038/s41467-024-52474-4, DOI: 10.1038/s41467-024-52474-4, ISSN: 2041-1723.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants. Circ Genom Precis Med [print-electronic]. 2024 Aug; 17(4): e004569. PMID: 38953211, PMCID: PMC11335442, DOI: 10.1161/CIRCGEN.124.004569, ISSN: 2574-8300.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Daniel ZA, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM. High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology. Genome Med. 2024 May 5/30/2024; 16(1): 73. PMID: 38816749, PMCID: PMC11138074, PII: 10.1186/s13073-024-01340-5, DOI: 10.1186/s13073-024-01340-5, ISSN: 1756-994X.
Wada Y, Wang L, Hall LD, Yang T, Short LL, Solus JF, Glazer AM, Roden DM. The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block. Cardiovasc Res. 2024 May 5/29/2024; 120(7): 735-44. PMID: 38442735, PMCID: PMC11135641, PII: 7621368, DOI: 10.1093/cvr/cvae042, ISSN: 1755-3245.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Minimum information and guidelines for reporting a multiplexed assay of variant effect. Genome Biol. 2024 Apr 4/19/2024; 25(1): 100. PMID: 38641812, PMCID: PMC11027375, PII: 10.1186/s13059-024-03223-9, DOI: 10.1186/s13059-024-03223-9, ISSN: 1474-760X.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant. Heart Rhythm [print-electronic]. 2023 Aug; 20(8): 1158-66. PMID: 37164047, PMCID: PMC10530503, PII: S1547-5271(23)02219-1, DOI: 10.1016/j.hrthm.2023.05.006, ISSN: 1556-3871.
Bersell KR, Yang T, Mosley JD, Glazer AM, Hale AT, Kryshtal DO, Kim K, Steimle JD, Brown JD, Salem JE, Campbell CC, Hong CC, Wells QS, Johnson AN, Short L, Blair MA, Behr ER, Petropoulou E, Jamshidi Y, Benson MD, Keyes MJ, Ngo D, Vasan RS, Yang Q, Gerszten RE, Shaffer C, Parikh S, Sheng Q, Kannankeril PJ, Moskowitz IP, York JD, Wang TJ, Knollmann BC, Roden DM. Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization. Circulation [print-electronic]. 2023 Mar 3/7/2023; 147(10): 824-40. PMID: 36524479, PMCID: PMC9992308, DOI: 10.1161/CIRCULATIONAHA.122.062193, ISSN: 1524-4539.
Floyd BJ, Weile J, Kannankeril PJ, Glazer AM, Reuter CM, MacRae CA, Ashley EA, Roden DM, Roth FP, Parikh VN. Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest. Circ Genom Precis Med [print-electronic]. 2023 Feb; 16(1): e003792. PMID: 36716194, PMCID: PMC9974880, DOI: 10.1161/CIRCGEN.122.003792, ISSN: 2574-8300.
Glazer AM. Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation. Curr Opin Genet Dev [print-electronic]. 2022 Dec; 77: 102004. PMID: 36368182, PMCID: PMC9743411, PII: S0959-437X(22)00119-8, DOI: 10.1016/j.gde.2022.102004, ISSN: 1879-0380.
O'Neill MJ, Wada Y, Hall LD, Mitchell DW, Glazer A, Roden DM. Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies. Circ Genom Precis Med [print-electronic]. 2022 Oct 10/5/2022; 101161CIRCGEN122003782. PMID: 36197721, DOI: 10.1161/CIRCGEN.122.003782, ISSN: 2574-8300.
Yoneda ZT, Anderson KC, Ye F, Quintana JA, O'Neill MJ, Sims RA, Sun L, Glazer AM, Davogustto G, El-Harasis M, Laws JL, Saldivar BN, Crawford DM, Stricker T, Wells Q, Darbar D, Michaud GF, Stevenson LW, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2022 Jul 7/1/2022; 7(7): 733-41. PMID: 35544069, PMCID: PMC9096694, PII: 2792049, DOI: 10.1001/jamacardio.2022.0810, ISSN: 2380-6591.
O'Neill MJ, Muhammad A, Li B, Wada Y, Hall L, Solus JF, Short L, Roden DM, Glazer AM. Dominant negative effects of SCN5A missense variants. Genet Med [print-electronic]. 2022 Jun; 24(6): 1238-48. PMID: 35305865, PMCID: PMC9262418, PII: S1098-3600(22)00656-6, DOI: 10.1016/j.gim.2022.02.010, ISSN: 1530-0366.
Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, , Denny J, Wei WQ, George AL, Shoemaker MB, Roden DM. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation [print-electronic]. 2022 Mar 3/22/2022; 145(12): 877-91. PMID: 34930020, PMCID: PMC8940719, DOI: 10.1161/CIRCULATIONAHA.121.055562, ISSN: 1524-4539.
Gulsevin A, Glazer AM, Shields T, Kroncke BM, Roden DM, Meiler J. Veratridine Can Bind to a Site at the Mouth of the Channel Pore at Human Cardiac Sodium Channel NaV1.5. Int J Mol Sci. 2022 Feb 2/17/2022; 23(4): PMID: 35216338, PMCID: PMC8878851, PII: ijms23042225, DOI: 10.3390/ijms23042225, ISSN: 1422-0067.
Wada Y, Yang T, Shaffer CM, Daniel LL, Glazer AM, Davogustto GE, Lowery BD, Farber-Eger EH, Wells QS, Roden DM. Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias. Circulation [print-electronic]. 2022 Jan 1/25/2022; 145(4): 299-308. PMID: 34994586, PMCID: PMC8852297, DOI: 10.1161/CIRCULATIONAHA.121.054883, ISSN: 1524-4539.
Yoneda ZT, Anderson KC, Quintana JA, O'Neill MJ, Sims RA, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Ye F, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2021 Dec 12/1/2021; 6(12): 1371-9. PMID: 34495297, PMCID: PMC8427496, PII: 2783693, DOI: 10.1001/jamacardio.2021.3370, ISSN: 2380-6591.
Papagiannis J, Yang T, Glazer AM, Tisma-Dupanovic S, Avramidis D, Kannankeril PJ, Viskin S, Walsh EP, Roden DM. Incessant atrial and ventricular tachycardias associated with an SCN5A mutation. HeartRhythm Case Rep. 2021 Dec; 7(12): 806-11. PMID: 34987964, PMCID: PMC8695285, PII: S2214-0271(21)00172-X, DOI: 10.1016/j.hrcr.2021.08.013, ISSN: 2214-0271.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. Circ Genom Precis Med [print-electronic]. 2021 Aug; 14(4): e003289. PMID: 34309407, PMCID: PMC8373797, DOI: 10.1161/CIRCGEN.120.003289, ISSN: 2574-8300.
Salem JE, Yang T, Moslehi JJ, Waintraub X, Gandjbakhch E, Bachelot A, Hidden-Lucet F, Hulot JS, Knollmann BC, Lebrun-Vignes B, Funck-Brentano C, Glazer AM, Roden DM. Androgenic effects on ventricular repolarization: A translational study from the international pharmacovigilance database to iPSC-cardiomyocytes. Ann Endocrinol (Paris) [print-electronic]. 2021 Jun; 82(3-4): 132-3. PMID: 32171470, PII: S0003-4266(20)30031-7, DOI: 10.1016/j.ando.2020.02.008, ISSN: 2213-3941.
Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR, . KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine. Circ Genom Precis Med [print-electronic]. 2020 Dec; 13(6): e003133. PMID: 33141630, PMCID: PMC7748050, DOI: 10.1161/CIRCGEN.120.003133, ISSN: 2574-8300.
Kozek KA, Glazer AM, Ng CA, Blackwell D, Egly CL, Vanags LR, Blair M, Mitchell D, Matreyek KA, Fowler DM, Knollmann BC, Vandenberg JI, Roden DM, Kroncke BM. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1. Heart Rhythm [print-electronic]. 2020 Dec; 17(12): 2180-9. PMID: 32522694, PMCID: PMC7704534, PII: S1547-5271(20)30542-7, DOI: 10.1016/j.hrthm.2020.05.041, ISSN: 1556-3871.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. High-Throughput Reclassification of SCN5A Variants. Am J Hum Genet [print-electronic]. 2020 Jul 7/2/2020; 107(1): 111-23. PMID: 32533946, PMCID: PMC7332654, PII: S0002-9297(20)30162-2, DOI: 10.1016/j.ajhg.2020.05.015, ISSN: 1537-6605.
Kroncke BM, Smith DK, Zuo Y, Glazer AM, Roden DM, Blume JD. A Bayesian method to estimate variant-induced disease penetrance. PLoS Genet. 2020 Jun; 16(6): e1008862. PMID: 32569262, PMCID: PMC7347235, PII: PGENETICS-D-19-01892, DOI: 10.1371/journal.pgen.1008862, ISSN: 1553-7404.
Glazer AM, Kroncke BM, Matreyek KA, Yang T, Wada Y, Shields T, Salem JE, Fowler DM, Roden DM. Deep Mutational Scan of an SCN5A Voltage Sensor. Circ Genom Precis Med [print-electronic]. 2020 Feb; 13(1): e002786. PMID: 31928070, PMCID: PMC7031040, DOI: 10.1161/CIRCGEN.119.002786, ISSN: 2574-8300.
Chavali NV, Kryshtal DO, Parikh SS, Wang L, Glazer AM, Blackwell DJ, Kroncke BM, Shoemaker MB, Knollmann BC. Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome. Heart Rhythm [print-electronic]. 2019 Nov; 16(11): 1686-95. PMID: 31004778, PMCID: PMC6935564, PII: S1547-5271(19)30360-1, DOI: 10.1016/j.hrthm.2019.04.031, ISSN: 1556-3871.
Salem JE, Yang T, Moslehi JJ, Waintraub X, Gandjbakhch E, Bachelot A, Hidden-Lucet F, Hulot JS, Knollmann BC, Lebrun-Vignes B, Funck-Brentano C, Glazer AM, Roden DM. Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes. Circulation [print-electronic]. 2019 Sep 9/24/2019; 140(13): 1070-80. PMID: 31378084, PMCID: PMC6756939, DOI: 10.1161/CIRCULATIONAHA.119.040162, ISSN: 1524-4539.
Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA Cardiol. 2019 Feb 2/1/2019; 4(2): 136-43. PMID: 30673079, PMCID: PMC6439628, PII: 2722685, DOI: 10.1001/jamacardio.2018.4615, ISSN: 2380-6591.
Grouthier V, Lebrun-Vignes B, Glazer AM, Touraine P, Funck-Brentano C, Pariente A, Courtillot C, Bachelot A, Roden DM, Moslehi JJ, Salem JE. Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors. Heart [print-electronic]. 2018 Nov; 104(22): 1859-63. PMID: 29720397, PMCID: PMC8022857, PII: heartjnl-2017-312934, DOI: 10.1136/heartjnl-2017-312934, ISSN: 1468-201X.
Roden DM, Glazer AM, Kroncke B. Arrhythmia genetics: Not dark and lite, but 50 shades of gray [editorial]. Heart Rhythm [print-electronic]. 2018 Aug; 15(8): 1231-2. PMID: 29709575, PMCID: PMC6590670, PII: S1547-5271(18)30393-X, DOI: 10.1016/j.hrthm.2018.04.031, ISSN: 1556-3871.
Salem JE, Waintraub X, Courtillot C, Shaffer CM, Gandjbakhch E, Maupain C, Moslehi JJ, Badilini F, Haroche J, Gougis P, Fressart V, Glazer AM, Hidden-Lucet F, Touraine P, Lebrun-Vignes B, Roden DM, Bachelot A, Funck-Brentano C. Hypogonadism as a Reversible Cause of Torsades de Pointes in Men [letter]. Circulation. 2018 Jul 7/3/2018; 138(1): 110-3. PMID: 29967236, PMCID: PMC6053686, PII: CIRCULATIONAHA.118.034282, DOI: 10.1161/CIRCULATIONAHA.118.034282, ISSN: 1524-4539.
Kroncke BM, Glazer AM, Smith DK, Blume JD, Roden DM. SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance. Circ Genom Precis Med. 2018 May; 11(5): e002095. PMID: 29728395, PMCID: PMC5941942, PII: CIRCGEN.118.002095, DOI: 10.1161/CIRCGEN.118.002095, ISSN: 2574-8300.
Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL, Chazin WJ. A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel. Structure [print-electronic]. 2018 May 5/1/2018; 26(5): 683-694.e3. PMID: 29606593, PMCID: PMC5932218, PII: S0969-2126(18)30085-6, DOI: 10.1016/j.str.2018.03.005, ISSN: 1878-4186.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 Mar 3/16/2018; 359(6381): 1233-9. PMID: 29590070, PMCID: PMC5959723, PII: 359/6381/1233, DOI: 10.1126/science.aal4043, ISSN: 1095-9203.
Wells QS, Veatch OJ, Fessel JP, Joon AY, Levinson RT, Mosley JD, Held EP, Lindsay CS, Shaffer CM, Weeke PE, Glazer AM, Bersell KR, Van Driest SL, Karnes JH, Blair MA, Lagrone LW, Su YR, Bowton EA, Feng Z, Ky B, Lenihan DJ, Fisch MJ, Denny JC, Roden DM. Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults. Pharmacogenet Genomics. 2017 Jul; 27(7): 247-54. PMID: 28542097, PMCID: PMC5502740, DOI: 10.1097/FPC.0000000000000284, ISSN: 1744-6880.
Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Xu Y, Glazer AM, Mosley JD, Zhao S, Raychaudhuri S, Mallal S, Ye Z, Mayer JG, Brilliant MH, Hebbring SJ, Roden DM, Phillips EJ, Denny JC. Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Sci Transl Med. 2017 May 5/10/2017; 9(389): PMID: 28490672, PMCID: PMC5563969, PII: 9/389/eaai8708, DOI: 10.1126/scitranslmed.aai8708, ISSN: 1946-6242.
Karnes JH, Shaffer CM, Bastarache L, Gaudieri S, Glazer AM, Steiner HE, Mosley JD, Mallal S, Denny JC, Phillips EJ, Roden DM. Comparison of HLA allelic imputation programs. PLoS One. 2017; 12(2): e0172444. PMID: 28207879, PMCID: PMC5312875, PII: PONE-D-16-48785, DOI: 10.1371/journal.pone.0172444, ISSN: 1932-6203.
Assad TR, Hemnes AR, Larkin EK, Glazer AM, Xu M, Wells QS, Farber-Eger EH, Sheng Q, Shyr Y, Harrell FE, Newman JH, Brittain EL. Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension. J Am Coll Cardiol. 2016 Dec 12/13/2016; 68(23): 2525-36. PMID: 27931609, PMCID: PMC5157701, PII: S0735-1097(16)36493-2, DOI: 10.1016/j.jacc.2016.09.942, ISSN: 1558-3597.