Skip to content


Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC.  Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement from the American Heart Association.  Circ Genom Precis Med. 2020 Aug;13(4):e000067.  PMID:  32698598. Link

Landstrom AP, Shah SH.  Rare Things Being Common:  Implications for Common Variants in Rare Diseases Like Long QT Syndrome.  Circulation.  2020 Jul 28;142(4):339-341. PMID: 32718255. Link

Tadros HJ, Life CS, Garcia G, Pirozzi E, Jones EG, Datta S, Parvatiyar MS, Chase PB, Allen HD, Kim JJ, Pinto JR, Landstrom AP.  Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hotspots that are associated with worse clinical outcomes.  J Mol Cell Cardiol.  2020. 142:118-125.  PMID: 32278834. Link

Levine AT, Born HA, Landstrom AP, Larson S, Lee WL, Dao AT, Wehrens XH, Lai YC, Anderson AE.  Cardiac dysregulation following intrahippocampal kainate-induced status epilepticus.  Sci Rep.  2020.  10(1):4043.  PMID:  32132552. Link

Ezekian JE, Clippinger SR, Garcia JM, Yanq Q, Denfield S, Jeewa A, Dreyer WJ, Zou W, Fan Y, Allen HD, Kim JJ, Greenberg MJ, Landstrom AP.  The variant R94C in TNNT2-encoded troponin T predisposes to pediatric restrictive cardiomyopathy and sudden death through impaired thin filament relaxation resulting in myocardial diastolic dysfunction.  J Am Heart Assoc.  2020.  9(5):e015111.  PMID: 32098556. Link

Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ.  An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. Circulation.  2020.  141(6):429-39.  PMID: 31941373. Link

Howard TS, Valdes SO, Hope KD, Morris SA, Landstrom AP, Schneider AE, Miyake CY, Denfield SW,
Pignatelli RH, Wang Y, Kim JJ. Association of Wolff-Parkinson-White with left ventricular
noncompaction cardiomyopathy in children. J Card Fail. 2019. 25(12):1004-1008. PMID: 31626950. Link

Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP.  Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.  Sci Rep.  2019. 9(1):9038.  PMID: 31227780. Link

Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP.  Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.  Mol Genet Genom Med.  2019.  7(6):e593.  PMID: 30985088. Link

Jones EG, Landstrom AP.  Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.  J Vis Exp.  2019. (143), e58907.  PMID: 30735170. Link

Connell PS, Jeewa A, Kearney DL, Tunuguntla H, Denfield SW, Allen HD, Landstrom AP.   A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. Clin Case Rep. 2018 Dec 14;7(1):211-217. PMID: 30656044.  Link

Dailey-Schwartz AL, Tadros HJ, Azamian MS, Lalani S, Morris SA, Allen HD, Kim JJ, Landstrom AP.  Copy number variants of undetermined significance are not associated with worse clinical outcomes in hypoplastic left heart syndrome. J Peds.  2018.  202:206-211. PMID:  30172441. Link

Valdes SO, Landstrom AP, Schneider AE, Miyake CY, de la Uz CM, Kim JJ. Intravenous sotalol for the management of post-operative junctional ectopic tachycardia.  HeartRhythm Case Rep.  2018.  4(8):375-77.  PMID: 30116712.  Link

Valdes SO, Miyake CY, Niu MC, de la Uz CM, Asaki SY, Landstrom AP, Schneider AE, Rusin CG, Patel R, Lam WW, Kim JJ.  Early experience with intravenous sotalol in children with and without congenital heart disease. Heart Rhythm.  2018.  In Press.  PMID: 30003959. Link

Landstrom AP, Fernandez E, Rosenfeld JA, Yang Y, Dailey-Schwartz AL, Miyake CY, Allen HD, Penny DJ, Kim JJ. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise. Heart Rhythm. 2018. 15(7):1042-50. PMID: 29501670. Link

Hildebrandt MAT, Reyes M, Wu X, Pu X, Thompson KA, Ma J, Landstrom AP, Morrison AC, Ater J. Hypertension susceptibility loci are predictors of anthracycline-related cardiotoxicity in long-term childhood cancer survivors. Sci Rep. 2017. 7(1):9698. PMID: 28851949. Link

Landstrom AP, Dobrev D, Wehrens XHT. Calcium signaling and cardiac arrhythmias. Circ Res. 2017. 120(12):1969-93. PMID: 28596175. Link

Veltri T, Landim-Vieira M, Parvatiyar MS, Gonzelez-Martinez D, Jones KD, Michell CA, Dweck D, Landstrom AP, Chase PB, Pinto JR. Hypertrophic cardiomyopathy cardiac troponin C mutations differentially affect slow skeletal and cardiac muscle regulation. Front Physiol. 2017. 8:221. PMID: 28473771. Link

Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Allen HD, Penny DJ, Kim JJ. Interpreting incidentally identified variants in genes associated with catecholaminergic polymorphic ventricular tachycardia in a large cohort of clinical whole exome genetic test referrals. Circ Arrhythm Electrophysiol. 2017. 10(4):e004742. PMID: 28404607. Link

Quick AP, Landstrom AP, Wang Q, Beavers DL, Reynolds JO, Barreto-Torres G, Tran V, Showell J, Philippen LE, Morris SA, Skapura D, Bos JM, Pedersen SE, Pautler RG, Ackerman MJ, Wehrens XHT. Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction. JACC Basic Tranl Sci. 2017. 2(1):56-67. PMID: 28393127. Link

Landstrom AP, Boczek NJ, Ye D, Miyake CY, De la Uz CM, Allen HD, Ackerman MJ, Kim JJ. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. Int J Cardiol. 2016. 220:290-8. PMID: 27390944. Link

Quick AP, Landstrom AP, Wehrens XHT. Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodeling. Heart Rhythm. 2016. 13(3):753-4. PMID: 26598319. Link

Landstrom AP, Sun JJ, Ray RS, Wehrens XHT. It’s not the heart: autonomic nervous system predisposition to lethal ventricular arrhythmias. Heart Rhythm. 2015. 12(11):2294-5. PMID: 26164374. Link

Wang W, Landstrom AP, Wang Q, Munro ML, Beavers D, Ackerman MJ, Soeller C, Wehrens, XHT. Reduced junctional sodium/calcium exchanger activity contributes to sarcoplasmic reticulum calcium leak in junctophilin 2-deficient mice. 2014. Am J Physiol Heart Circ Physiol. 2014. 307(9):1317-26. PMID: 25193470. Link

Beavers DL, Landstrom AP, Chiang DY, Wehrens XHT. Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases. Cardiovasc Res. 2014. 103(2): 198-205. PMID: 24935431. Link

Landstrom AP, Beavers DL, Wehrens XHT. The Junctophilin Family of Proteins: From Bench to Bedside. Trends Mol Med. 2014. 20(6):353-362. PMID: 24636942. Link

Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ. Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise. J Cardiovasc Transl Res. 2014. 7(3):347-61. PMID: 24510615. Link


Beavers DL, Wang W, Ather S, Voigt N, Garbino A, Dixit SS, Landstrom AP, Li N, Wang Q, Olivotto I, Dobrev D, Ackerman MJ, Wehrens XHT. Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization. J Am Coll Cardiol. 2013. 62(21):2010-19. PMID: 23973696. Link

Reynolds J, Chiang DY, Wang W, Beavers DL, Dixit S, Skapura DG, Landstrom AP, Song LS, Ackerman MD, Wehrens XHT. Junctophilin-2 is necessary for T-tubule formation during mouse heart development. 2013. Cardiovasc Res. 2013, 100(1):44-53. PMID: 23715556. Link


Parvatiyar MS, Landstrom AP, Freitas C, Potter JD, Ackerman MJ, Pinto JR. A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. J Biol Chem. 2012, 287(38):31845-55. PMID: 22815480. Link

Landstrom AP, Ackerman MJ. Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy-Associated Mutations in Genes that Encode Calcium-Handling Proteins. Curr Mol Med. 2012, 12(5):507-18. PMID: 22515980. Link

Prior to 2012

Landstrom AP, Ackerman MJ. The Achilles’ Heel of Cardiovascular Genetic Testing: Distinguishing Pathogenic Mutations from Background Genetic Noise. Clin Pharmacol Ther. 2011, 90(4):496-99. PMID: 21934721. Link

Kapplinger JD, Landstrom AP, Salisbury BA, Callis TH, Pollevick GD, Tester DJ, Cox MGPJ, Bhuiyan Z, Bikker H, Wiesfeld ACP, Hauer RNW, van Tintelen JP, Jongbloed JDH, Calkins H, Wilde AAM, Ackerman MJ. Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia-Associated Mutations from Background Genetic Noise. J Am Coll Cardiol. 2011, 57(23): 2317-27. PMID: 21636032. Link

Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST. Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System with Stretch. J Neuropathol Exp Neurol. 2011, 70(4):302-13. PMID: 21412170. Link

van Oort RJ, Garbino A, Wang W, Dixit SS, Landstrom AP, Gaur N, De Almeida AC, Skapura DG, Rudy Y, Burns AR, Ackerman MJ, Wehrens XHT. Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors Following Acute Junctophilin Knockdown in Mice. Circulation. 2011, 123(9):979-88. PMID: 21339484. Link

Landstrom AP, Kellen CA, Dixit SS, van Oort RJ, Garbino A, Weisleder N, Ma J, Wehrens XHT, Ackerman MJ. Junctophilin-2 expression silencing causes cardiomyocyte hypertrophy and abnormal intracellular calcium handling. Circ Heart Fail. 2011, 4(2):214-23. PMID: 21216834. Link

Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded Phospholamban Mutation in a Large Cohort of Hypertrophic Cardiomyopathy Cases: Summary of the Literature and Implications for Genetic Testing. Am Heart J. 2011, 161(1):165-71. PMID: 21167350. Link

Landstrom AP, Ackerman MJ. Mutation Type is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy. Circulation. 2010, 122(23):2441-50. PMID: 21135372. Link

Landstrom AP, Ackerman MJ. GWAS or Gee Whiz, PSAS or Pshaw: Elucidating the Biologic and Clinical Significance of Genetic Variation in Cardiovascular Disease. Heart Rhythm. 2009, 6(12):1751-3. PMID: 19959124. Link

Garbino A, van Oort RJ, Dixit SS, Landstrom AP, Ackerman MJ, Wehrens XHT. Molecular Evolution of the Junctophilin Gene Family. Physiol Genomics. 2009, 37(3):175-86. PMID: 19318539. Link

Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008, 45(2):281-8. PMID: 18572189. Link

Ackerman MJ, Landstrom AP. Detection of Subclinical Fabry Disease in Patients Presenting with Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2007, 50(25):2404-5. PMID: 18154966. Link

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Landstrom A, Bos JM, Ommen SR, Lepri F, Esposito G, Siguero JPL, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007, 39(8):1007-12. PMID: 17603483. Link

Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XHT, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Mutations in JPH2-Encoded Junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007, 42(6):1026-35. PMID: 17509612. Link