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Publications

Trainee Publication Tally

Publications lead or co-lead by a Landstrom Lab trainee
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Kurzlechner LM, Kishnani S, Chowdhury S, Atkins SL, Moya-Mendez ME, Parker LE, Rosamilia MB, Tadros HJ, Pace LA, Patel V, Chahal AA, Landstrom AP.  DiscoVari: a web-based precision medicine tool for predicting variant pathogenicity in cardiomyopathy- and channelopathy-associated genes.  Circ Genom Precis Med.  2023.  In Press. Link

Asatryan B, Shah RA, Dabbagh GS, Landstrom AP, Darbar D, Khanji MY, Lopes LR, van Duijvenboden S, Muser D, Lee AM, Haggerty CM, Arora P, Semsarian C, Reichlin T, Somers VK, Owens AT, Petersen SE, Deo Rajat, Munroe PB, Aung N, Chahal CAA.  Predicted Deleterious Variants in Cardiomyopathy Genes Prognosticate Mortality and Composite Outcomes in UK Biobank.  JACC Heart Fail.  2023.  In Press

Yang Q, Tadros HJ, Sun B, Bidzimou MT, Ezekian JE, Li F, Ludwig A, Wehrens XHT, Landstrom AP.  Junctional ectopic tachycardia caused by junctophilin-2 expression silencing is selectively sensitive to ryanodine receptor blockade.  JACC Basic Transl Sci.  2023.  In Press.

Noyd DH, Yasui Y, Liu Q, Chow E, Bhatia S, Nathan PC, Landstrom AP, Tonorezos E, Casillas J, Berkman A, Ness KK, Mulrooney DA, Leisenrin WM, Howel CR, Shoag J, Kirchhoff A, Howell R, Gibson TM, Zullig LL, Armstrong GT, Oeffinger KC.  Cardiovascular Risk Factors Disparities in Adult Survivors of Childhood Cancer Compared with the General Population.  JACC: CardioOncology.  2023.  In Press. Link 

Landstrom AP, Chahal AA, Ackerman MJ, Cresci S, Milewicz D, Morris AA, Sarquella-Brugada G, Semsarian C, Shah SH, Sturm AC.  Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease:  A Scientific Statement from the American Heart Association. Circ Genom Precis Med.  2023.  Mar 27:e000092.  PMID: 36970980 Link

Parker LE, Kurzlechner LM, Landstrom AP.  Induced Pluripotent Stem Cell-Based Modeling of Single Ventricle Congenital Heart Diseases.  Curr Cardiol Rep.  2023.  Mar 17.  PMID: 36930454 Link

Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow A, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffman R, Hirano M, Kishnani PS.  Diagnosis and Management of Glycogen Storage Disease Type IV, Including Adult Polyglucosan Body Disease: A Clinical Practice Resource.  Mol Genet Metab.  2023.  Mar;138(3):107525.   PMID: 36796138 Link

Landstrom AP, Yang Q, Sun B, Perelli RM, Bidzimou MT, Zhang Z, Aguilar-Sanchez Y, Alsina KM, Cao S, Reynolds JO, Word TA, van der Sangen NMR, Wells Q, Kannankeril PJ, Ludwig A, Kim JJ, Wehrens XHT.  Reduction in junctophilin 2 expression in cardiac nodal tissue results in intracellular calcium-driven increase in nodal cell automaticity.  Circ Arrhythm Electrophys.  2023 Feb;16(2): e010858.  PMID: 36706317 (Co-Corresponding Author) Link

Novembre J, Stein C, Asgari S, Gonzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, Tishkoff S.  Addressing the challenges of polygenic scores in human genetic research.  ASHG Guidance.  Am J Hum Genet. 2022.  Dec 1;109(12):2095-2100.  PMID: 36459976 Link

Beaman M, Fisher K, McDonald M, Tan QKG, Jackson D, Cocanougher BT, Landstrom AP, Hobbs CA, Cotten M, Cohen JL.  Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.  J Pers Med. 2022. Nov 18;12(11):1924.   PMID: 36422100 Link

Yang Q, Berkman AM, Ezekian JE, Rosamilia M, Rosenfeld JA, Liu P, Landstrom AP.  Determining the likelihood of disease pathogenicity among incidentally identified genetic variants in rare dilated cardiomyopathy-associated genes. J Am Heart Assoc.  2022.  Oct 4;11(19):e025257.  PMID: 36129056 Link

Bidzimou MTK, Landstrom AP.  From diagnostic testing to precision medicine: The evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.  Curr Opin Genet Dev.  2022. Oct;76:101978.  PMID: 36058060 Link

Lemke AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, Hanchard NA, Harris-Wai J, Ideozu JE, Isasi R, Landstrom PA, Prince AER, Turbitt E, Sabatello M, Schrier Vergano SA, Taylor MRG, Yu JH, Brothers KB, Garrison NA.  Addressing underrepresentation in genomics research through community engagement.  ASHG Guidance.  Am J Hum Genet. 2022.  Sep 1;109(9):1563-1571.  PMID: 36055208 Link

Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz, E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Moris S, Olson AK, Renard M, Roden DM, Singh MN, Tierney ESS, Tretter JT, Van Driest SL, Willig M, Verstraeten A, Van Laer L, Lacro R, Loeys BL.  Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a pediatric Marfan syndrome cohort.  Genet Med.  2022.  May;24(5):1045-1053.  PMID: 35058154 Link

Shah RA, Astryan B, Dabbagh GS, Aung N, Khanji MY, Lopes LR, van Duijvenboden S, Holmes A, Muser D, Landstrom AP, Lee AM, Arora P, Semsarian C, Somers VK, Owens AT, Munroe PB, Petersen S, Chahal CAA.  The Frequency, Penetrance and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.  Circulation. 2002. Link

Scherba JC, Halushka MK, Andersen ND, Maleszewski JJ, Landstrom AP, Bursac N, Glass C. BRG1 is a Biomarker of Hypertrophic Cardiomyopathy in Human Heart Specimens.  Sci Rep. 2022. May 17;12(1):7996. PMID: 35581268. Link

Kurzlechner LM, Jones EG, Berkman AM, Tadros HJ, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Kim JJ, Landstrom AP. Signal-to-noise analysis can inform the likelihood that incidentally identified variants in sarcomeric genes are associated with pediatric cardiomyopathy. J Pers Med.  2022. Apr 30;12(5):733. PMID: 35629155. Link

Parker LE, Wallace K, Thevathasan A, Funk E, Pratt M, Thamby J, Tran L, Prange L, Uchitel J, Boggs A, Minton M, Jasien J, Nagao KJ, Richards A, Cruse B, Dear GD, Landstrom AP, Mikati MA. Characterization of Sedation and Anesthesia Complications in Patients with Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022. Mar 29;38:47-52. PMID: 35390560. Link

Draelos RL, Ezekian JE, Zhuang F, Moya-Mendez ME, Zhang Z, Rosamilia MB, Manivannan PKR, Henao R, Landstrom AP. GENESIS: Gene-specific machine learning models for variants of uncertain significance found in catecholaminergic polymorphic ventricular tachycardia and long QT syndrome-associated genes. Circ Arrhythm Electrophysiol. 2022. Apr;15(4):e010326. PMID: 35357185. Link

Rosamilia MB, Lu IM, Landstrom AP. Pathogenicity assignment of variants in genes associated with cardiac channelopathies evolve toward diagnostic uncertainty. Circ Genom Precis Med. 2022 Jun;15(3):e003491. PMID: 35543671. Link

Huggins E, Holland M, Case LE, Blount J, Landstrom AP, Jones HN, Kishnani PS. Early Clinical Phenotype of Late Onset Pompe Disease: Lessons Learned from Newborn Screening. Mol Genet Metab. 2022 Mar;135(3):179-185. PMID: 35123877. Link

Nguyen HX, Wu T, Needs D, Zhang H, Perelli R, DeLuca S, Yang R, Tian M, Landstrom AP, Henriquez C, Bursac N. Engineered BacNav platform for cardiac gene therapy. Nat Commun. 2022. Feb 2; 13(1):620. PMID: 35110560. Link

Cain N, Saul JP, Gongwer R, Trachtenberg F, Czosek RJ, Kim JJ, Kaltman JR, LaPage MJ, Janson CM, Singh AK, Hill AC, Landstrom AP, Thacher D, Niu MC, DeWitt ES, Bulic A, Silver ES, Whitehall RD, Decker J, Newburger JW. Relation of Norwood Shunt Type and Frequency of Arrhythmias at 6-years: From the Single Ventricle Reconstruction Trial. Am J Cardiol. 2022. Apr 15;169:107-112. PMID: 35101270. Link

Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz, E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Moris S, Olson AK, Renard M, Roden DM, Singh MN, Tierney ESS, Tretter JT, Van Driest SL, Willig M, Verstraeten A, Van Laer L, Lacro R, Loeys BL. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a pediatric Marfan syndrome cohort. Genet Med. 2022. May;24(5):1045-1053. PMID: 35058154. Link

Parker LE, Kramer RJ, Kaplan S, Landstrom AP. One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2. Trends. Cardiovasc Med. 2021. Dec 1; S1050-1738(21)00142-0. PMID: 34861382. Link

Yamada MM, Rosamilia MB, Chiswell KE, D’Ottavio A, Spears T, Osgood C, Miranda ML, Forestieri N, Li JS, Landstrom AP. Risk Factors for Sudden Infant Death in North Carolina. Front Pediatr. 2021. Dec 10;9:770803. PMID: 34956982. Link

Asatryan B, Asimaki A, Landstrom AP, Khanji MY, Odening KE, Cooper LT, Marchlinski FE, Gelzer AR, Semsarian C, Reichlin T, Owens AT, Chahal CAA. Inflammation and Immune Response in Arrhythmogenic Cardiomyopathy: State-of-the-Art Review. Circulation. 2021. Nov 16;144(20):1646-1655. PMID: 34780255. Link

Noyd DH, Berkman A, Howell C, Power S, Kreissman SG, Landstrom AP, Khouri M, Oeffinger KC, Kibbe WA. Leveraging Clinical Informatics Tools to Extract Cumulative Anthracycline Exposure, Measure Cardiovascular Outcomes, and Assess Guideline Adherence for Children with Cancer. JCO Clin Cancer Inform. 2021. Oct;5:1062-1075. PMID: 34714665. Link

Lei I, Huang W, Ward PA, Pober JS, Tellides G, Ailawadi G, Pagani FD, Landstrom AP, Wang Z, Cascalho M, Platt J, Chen E, Lam HYK, Tang PC. Differential Inflammatory Responses of the Native Left and Right Ventricle Associated with Donor Heart Preservation. Physiol Rep. 2021. Sep;9(17):e15004. PMID: 34435466. Link

Parker LE, Landstrom AP. The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care. Prog Pediatr Cardiol. 2021. Sept; 62:101413. PMID: 34776723. Link

Ezekian JE, Rehder C, Kishnani PS, Landstrom AP. Interpretation of incidental genetic findings localizing to genes associated with cardiac channelopathies and cardiomyopathies. Circ Genom Precis Med. 2021. Aug; 14(4):e003200. PMID: 34384235. Link

Funk EM, Mikati MA, Landstrom AP, Moya-Mendez ME, Wallace KR, Pratt MO, Heyes ME, Dear G. Anesthetic Implications in Alternating Hemiplegia of Childhood: A Case Report. AANA J. 2021

Lei I, Huang W, Ward PA, Pober JS, Tellides G, Ailawadi G, Pagani FD, Landstrom AP, Wang Z, Cascalho M, Platt J, Chen E, Lam HYK, Tang PC. Differential Inflammatory Responses of the Native Left and Right Ventricle Associated with Donor Heart Preservation. Physiol Rep. 2021. Sep;9(17):e15004. PMID: 34435466. Link

Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, de Lisle Dear G, Carboni MP, Idriss SF, Mikati MA, Landstrom AP. The ATP1A3-encoded sodium-potassium ATPase subunit alpha 3 D801N variant is associated with shortened QT interval and predisposition to ventricular fibrillation preceded by bradycardia. J Am Heart Assoc. 2021. Sep 7;10(17):e019887. PMID: 34459253. Link

Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM. Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement from the American Heart Association. Circ Genom Precis Med. 2021. Aug 20:HCG0000000000000086. PMID: 34412507. Link

Berkman AM, Hildebrandt MAT, Landstrom AP.  The Genetic Underpinnings of Anthracycline-Induced Cardiomyopathy Predisposition.  Clin Genet.  2021 Apr. PMID: 33871046. Link

Word TA, Quick AP, Miyake C, Shak MK, Pan Z, Kim JJ, Allen HD, Sibrian-Vazquez M, Stronging RM, Landstrom AP, Wehrens XHT.  Efficacy of RyR2 Inhibitor EL20 in Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with CPVT.  J Mol Cell Cardiol.  2021 Jun. PMID: 34110090.  (Co-Corresponding Author) Link

Markunas AM, Manivannan PKR, Ezekian JE, Agarwal A, Eisner W, Alsina K, Allen HD, Wray GA, Kim JJ, Wehrens XHT, Landstrom AP.  TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.  Am J Med Genet Part A.  2021 Mar;185(3):923-929. PMID: 33369127. Link

Connell PS, Berkman AM, Souder BM, Pirozzi EJ, Lovin JJ, Rosenfeld JA, Liu P, Tunuguntla H, Allen HD, Denfield SW, Kim JJ, Landstrom AP.  Amino acid-level signal-to-noise analysis aids in pathogenicity prediction of incidentally-identified TTN-encoded titin truncating variants.  Circ Genom Precis Med. 2021 Feb;14(1):e003131. PMID: 33226272. Link

Parker LE, Landstrom AP.  The genetic etiology of left-sided obstructive heart lesions: A story in development.  J Am Heart Assoc. 2021 Jan;10(2):e019006. PMID: 33432820. Link

Valera IC, Wacker AL, Hwang HS, Holmes C, Landstrom AP, Parvatiyar MS.  Essential Roles of the Dystrophin-Glycoprotein Complex in Different Cardiac Pathologies.  Adv Med Sci.  2020 Dec. PMID: 33387942Link

Reinoso TR, Landim-Vieira M, Shu Y, Johnston JR, Chase PB, Parvatiyar MS, Landstrom AP, Pinto JR, Tadros HJ.  A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.  J Muscle Res Cell M.  2020.  Nov 11.  PMID: 33179204. Link

Moore JP, Gallotti RG, Shannon KM, Bos JM, Sadeghi E, Strasburger J, Wakai RT, Horigome H, Clur SA, Hill AC, Shah MJ, Behere S, Sarquella-Brugada G, Czosek R, Etheride SP, Fischbach P, Kannakeril P, Motonaga K, Landstrom AP, Williams M, Patel A, Degradi F, Schwartz PJ, Tan RB, Stephenson E, Krishna MR, Miyake CY, Lee ME, Sanatani S, Balaji S, Young ML, Sidiqui S, Shivkumar K, Ackerman MJ.  Genotype Predicts Outcomes in Fetuses and Neonates with Severe Congenital Long QT Syndrome.  JACC Clin Electrophysiol.  2020  Nov;6(12):1561-1570.  PMID: 33213816. Link

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. 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. 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

2013

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

2012

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