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Abnormal Lipid Signaling Characterizes Diastolic Dysfunction in Pediatric Cardiomyopathy. Said A, Kinnear C, Lesurf R , López-Guillén JL, Akilen R, Patel S , Meng G, Wei W, Robillard Frayne I, Daneault C, Mertens L, Ellis J, Ruiz M, Mital S JACC Basic and Translational Science. (Feb 17, 2026) 11(3):101491Mavacamten in symptomatic adolescent patients with obstructive hypertrophic cardiomyopathy: design of the phase 3 SCOUT-HCM trial. Rossano J, Canter C, Wolf C, Favatella N, Lockman J, Puli S, Javidialsaadi A, Dyme J, Crevar C, Mital S . American Heart Journal (Feb 2026; Epub: Sep 30, 2025) DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects. Dombrowsky G, van der Laan L, Silva A, Breckpot J, Audain E, Wilsdon A, Levy MA, Vos N, Mannens M, Wang J, Jain A, Lesurf R, Winlaw D, Bezzina CR, Thomas MA, Caliebe A, Klaassen S, Berger F, Dittrich S, Stiller B, Abdul-Khaliq H, Dähnert I, Bu’Lock F, Loughna S, Brook JD, Mital S , Russell RB, Pickardt T, Bauer U, Kramer HH, Uebing A, Henneman P, Sadikovic B, Postma A, Hitz MP. Genome Medicine (Jan 7, 2026) 18(1):2 Unveiling the Predictive Landscape of Phospholamban Cardiomyopathy: Insights and Future Directions. Mital S . JACC: Heart Failure (Oct 2025; Epub: Aug 5, 2025) 13(10):102599 Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy. Suzuki T, Lesurf R, Akilen R, Xu X, Batke EM, Rao VJ, Jobling R, Zahavich L, Henden N, Ingles J, Torres EA, Hirono K, Roux‑Buisson N, Dhandapany PS, Sandmann C, Mital S . Journal of the American Heart Association (Sep 16, 2025; Epub: Sep 11, 2025) 14(18):e041298 Genetic Suppression Features ABHD18 as a Barth Syndrome Therapeutic Target. Masud SN, Srivastava A, Mero P, Echezarreta VS, Anderson E, van Buren L, Wei J, Taylor DT, Farias AG, Mikolajewicz N, Shaw A, Murareanu BM, Lohbihler M, Carney OS, van Heeringen S, Clijsters L, Sizova O, van Ameijde J, Nye F, Habsid A, Nedyalkova L, McDonald L, Simpson C, Wybenga-Groot L, Brown KR, Nho N, Suciu RM, Chan K, Tong AHY, Vaz FM, Evers B, Lesurf R, Papaz T , Nutter LMJ, Protze S, Billmann M, Costanzo M, Andrews BJ, Myers CL, Mital S , Vernon H, Brummelkamp TR, Boone C, Scott IC, Niphakis MJ, Strathdee D, Nijman SMB, Blomen VA, Moffat J. Nature (Sep 2025; Epub: Sep 3, 2025) 645(8082):1029–1038 Systems biology approaches investigating mitochondrial dysfunction in cyanotic heart disease: a systematic review. Elbatarny M, Lu YT, Hu M, Coles J, Mital S , Ross-White A, Honjo O, Barron DJ, Gramolini AO. EBioMedicine (Aug 2025; Epub: Jul 11, 2025) 118:105839 Diversifying the reference iPSC line concept. Ellis J, Woltjen K, Mital S, Saito MK, Hotta A, Loring JF. Cell Stem Cell (Jun 5, 2025) Prevalence, risk factors, and outcomes of QT prolongation in primary and RASopathy-associated hypertrophic cardiomyopathy. Österberg AW, Min S , Helle E, Bulic A, Mital S. Heart Rhythm (Jun 3, 2025) S1547-5271(25)02520-2 Right Ventricular Remodeling in Complex Congenital Heart Disease. Demonceaux M, Benseba J, Ruiz M, Mongeon FP, Khairy P, Mital S, Dore A, Mondésert B, Gravel MT, Dib N, Tan S, Poirier N, Ibrahim R, Chaix MA. Canadian Journal of Cardiology (Jun 2025; Epub: Jan 10, 2025);41(6):1067-1080 Towards non-invasive assessment of myocardial work using myocardial stiffness and strain: a human pilot study. Venet M, Baranger J, Malik A, Nguyen MB, Mital S , Friedberg MK, Pernot M, Papadacci C, Salles S, Chaturvedi R, Mertens L, Villemain O. European Heart Journal – Cardiovascular Imaging (May 30, 2025) 26(6):1051-1064 Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Sierant MC, Jin SC, Bilguvar K, Morton SU, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Sedore SC, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S , Russell M, Gaynor JW, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter GA Jr, Newburger JW, Seidman JG, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Chung WK, Gelb BD, Seidman CE, Brueckner M, Lifton RP. Proceedings of the National Academy of Sciences USA (Apr 2025; Epub Mar 24, 2025) 122(13):e2420343122. Recessive genetic contribution to congenital heart disease in 5,424 probands. Dong W, Jin SC, Sierant MC, Lu Z, Li B, Lu Q, Morton SU, Zhang J, López-Giráldez F, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S , Russell M, Gaynor JW, Cnota JF, Wagner M, Srivastava D, Bernstein D, Porter GA Jr, Newburger J, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Seidman J, Chung WK, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Proceedings of the National Academy of Sciences USA (Mar 11, 2025; Epub: Mar 3, 2025) 122(10):e2419992122 A validated heart-specific model for splice-disrupting variants in childhood heart disease. Lesurf R, Breckpot J, Bouwmeester J, Hanafi N, Jain A, Liang Y, Papaz T , Lougheed J, Mondal T, Alsalehi M, Altamirano-Diaz L, Oechslin E, Audain E, Dombrowsky G, Postma AV, Woudstra OI, Bouma BJ, Hitz MP, Bezzina CR, Blue GM, Winlaw DS, Mital S . Genome Medicine (Oct 15, 2024) 16(1):119 Implementation of a Sudden Cardiac Death Risk Prediction Tool in Clinical Practice Through Electronic Health Records (INSERT-HCM Study Design) Papaz T, Seto E, Anthony SJ, Pol SJ, Hayeems R, Barwick M, Mital S. CJC Open (Oct 9, 2024; Epub Jan 2025)7(1):46-52 Immune phenotyping in a pediatric multicenter transplant study: Suitability of a preformulated dry-antibody panel system. Ionescu LI, Blydt-Hansen T, Foster BJ, Allen U, Birk PE, Hamiwka L, Phan V, Min S , Ivison S, Levings M, West LJ, Mital S, Urschel S. Human Immunology (Sep 2024; Epub: Jul 15,2024) 85(5):110837 Cardiovascular Society Clinical Practice Update on Contemporary Management of the Patient With Hypertrophic Cardiomyopathy. Crean AM, Adler A, Arbour L, Chan J, Christian S, Cooper RM, Garceau P, Giraldeau G, Heydari B, Laksman Z, Mital S , Ong K, Overgaard C, Ruel M, Seifer CM, Ward MR, Tadros R. Canadian Journal of Cardiology (Sep 2024; Epub: Jun 14, 2024) 40(9):1503-1523. Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease. Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles‑Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. European Journal of Human Genetics (Jul 2024; Epub: May 22, 2024) 32(7):795–803 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S , Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB; Peer Review Committee Members. Circulation (Jun 4, 2024; Epub: May 8, 2024). 149(23):e1239-e1311 Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction. Kinnear C, Said A, Meng G, Zhao Y, Wang EY, Rafatian N, Parmar N , Wei W, Billia F, Simmons CA, Radisic M, Ellis J, Mital S. Cell Reports Medicine (May 21, 2024; Epub: Apr 19, 2024) 5(5):101520 Modeling the Relationship Between Diastolic Phenotype and Outcomes in Pediatric Hypertrophic Cardiomyopathy. Nguyen MB, Venet M, Steve Fan CP, Dragulescu A, Rusin CG, Mertens LL, Mital S , Villemain O. Journal of the American Society of Echocardiography (May 2024; Epub: Dec 12, 2023) 37(5):508–517.e3 Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy. Mitina A, Khan M, Lesurf R , Yin Y, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I, Guo K, Pallotto LM, Lam Doong PH, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T , Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S , Yuen RKC. EBioMedicine (Mar 2024; Epub: Feb 27, 2024) 101:105027 Comparison Between Acoustic Radiation Force‑Induced and Natural Wave Velocities for Myocardial Stiffness Assessment in Hypertrophic Cardiomyopathy. Malik A, Villalobos Lizardi JC, Baranger J, Venet M, Pernot M, Mital S , Nguyen MB, Chaturvedi R, Mertens L, Villemain O. JACC: Cardiovascular Imaging (Feb 2024; Epub: Sep 20, 2023) 17(2):223–225 Age and Sex Differences in the Genetics of Cardiomyopathy. Akinrinade O, Lesurf R , Genomics England Research Consortium, Lougheed J, Mondal T, Smythe J, Altamirano‑Diaz L, Oechslin E, Mital S . Journal of Cardiovascular Translational Research (Dec 2023; Epub: Jul 21, 2023) 16(6):1287–1302 Heart Failure with Recovered Ejection Fraction in Patients with Vinculin Loss‑of‑function Variants. Zahavich L, Akilen R , George K, Mital S. Journal of Cardiovascular Translational Research (Dec 2023; Epub: Aug 7, 2023) 16(6):1303–1309 Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome. Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM, National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Mital S , Chong JX, Nascone‑Yoder NM, Bamshad MJ. Human Genetics and Genomics Advances Augt 12, 2023; Epub: Oct 12, 2023) 4(4):100232 Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve. Tessler I, Albuisson J, Piñeiro‑Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero‑Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S , Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. JAMA Cardiology (Aug 1, 2023; Epub: Jul 5, 2023) 8(8):721–731 Systematic characterization of regulatory variants of blood pressure genes. Oliveros W, Delfosse K, Lato DF, Kiriakopulos K, Mokhtaridoost M, Said A, McMurray BJ, Browning JWL, Mattioli K, Meng G, Ellis J, Mital S , Melé M, Maass PG. Cell Genomics (Jul 12, 2023; Epub: May 24, 2023) 3(7):100330 Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease. Blue GM, Mital S. Circulation: Genomic and Precison Medicine (June 2023; Epub: May 17, 2023)16(3):232-235. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S , Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK. Circulation: Genomic and Precision Medicine (Apr 2023; Epub: Mar 3, 2023) 16(2):e003900 Risk of Sudden Death in Patients With RASopathy Hypertrophic Cardiomyopathy. Lynch A, Tatangelo M, Ahuja S, Steve Fan CP, Min S , Lafreniere‑Roula M, Papaz T , Zhou V , Armstrong K, Aziz PF, Benson LN, Butts R, Dragulescu A, Gardin L, Godown J, Jeewa A, Kantor PF, Kaufman BD, Lal AK, Parent JJ, Richmond M, Russell MW, Balaji S, Stephenson EA, Villa C, Jefferies JL, Whitehill R, Conway J, Howard TS, Nakano SJ, Rossano J, Weintraub RG, Mital S . Journal of the American College of Cardiology (Mar 21, 2023) 81(11):1035–1045 Differences in medication adherence by sex and organ type among adolescent and young adult solid organ transplant recipients. Vaisbourd Y, Dahhou M, Zhang X, Sapir-Pichhadze R, Cardinal H, Johnston O, Blydt-Hansen TD, Tibbles LA, Hamiwka L, Urschel S, Birk P, Bissonnette J, Matsuda‑Abedini M, JH, Schiff J, Phan V, De Geest S, Allen U, Avitzur Y, Mital S , Foster BJ. Pediatric Transplantation (Mar 2023; Epub: Dec 7, 2022) 27(2):e14446 The Prevalence and Association of Exercise Test Abnormalities With Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy. Conway J, Min S , Villa C, Weintraub RG, Nakano S, Godown J, Tatangelo M, Armstrong K, Richmond M, Kaufman B, Lal AK, Balaji S, Power A, Baez Hernandez N, Gardin L, Kantor PF, Parent JJ, Aziz PF, Jefferies JL, Dragulescu A, Jeewa A, Benson L, Russell MW, Whitehill R, Rossano J, Howard T, Mital S . Circulation (Feb 28, 2023; Epub: Nov 6, 2022) 147(9):718–727 KMT2D‑NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome. Yu Z, Zhou X, Liu Z, Pastrana‑Gomez V, Liu Y, Guo M, Tian L, Nelson TJ, Wang N, Mital S , Chitayat D, Wu JC, Rabinovitch M, Wu SM, Snyder MP, Miao Y, Gu M. Circulation Research (Jul 22, 2022 ; Epub : Jun 28, 2022 ) 131(3):280–282 Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis. Jegathisawaran J, Tsiplova K, Hayeems RZ, Marshall CR, Stavropoulos DJ, Pereira SL, Thiruvahindrapuram B, Liston E, Reuter MS, Manshaei R, Cohn I, Jobling R, Kim RH, Mital S , Ungar WJ. Genetics in Medicine ( May 2022 ; Epub : Feb 24 , 2022 ) 24(5):1027–1036 Regional Vascular Changes and Aortic Dilatation in Pediatric Patients With Bicuspid Aortic Valve. Rumman RK, Slorach C, Hui W, Lopez C, Larios G, Fan S, Franco‑ Cereceda A, Loeys B, Mohamed SA, Dietz H, Mital S , Andelfinger G, Mertens L, Grattan M; Mechanistic Interrogation of Bicuspid Aortic Valve‑associated Aortopathy (MIBAVA) Leducq Consortium. Canadian Journal of Cardiology (May 2022; Epub : Jan 29, 2022 ) 38(5):688–694 Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort. 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 , Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Genetics in Medicine ( May 2022; EPub : Jan 17, 2022 ) 24(5):1045–1053 Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. Lesurf R, Said A, Akinrinade O , Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F , Noche RR, Oliveros W, Mattioli K, Shah S, Miron A , Yang Q , Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. npj Genomic Medicine (Mar 1 4 , 2022) 7(1):18 JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency. Dave JM, Chakraborty R, Ntokou A, Saito J, Saddouk FZ, Feng Z, Misra A, Tellides G, Riemer RK, Urban Z, Kinnear C , Ellis J, Mital S , Mecham R, Martin KA, Greif DM. Journal of Clinical Investigation (Mar 1, 2022 ; E pub : Jan 6, 2022 ) 132(5):e142338 Patients with repaired tetralogy of Fallot and the HIF1A1744C/T variant have increased imaging markers of diffuse myocardial fibrosis. Vaikom House AK, Chetan D, Mital S, Grosse‑Wortmann L. International Journal of Cardiology ( Mar 1, 2022 ; Epub : Dec 31, 2021 ) 350:33–35 An Integrated Clinical and Genetic Prediction Model for Tacrolimus Levels in Pediatric Solid Organ Transplant Recipients. Min S, Papaz T , Lambert AN, Allen U, Birk P, Blydt ‑Hansen T, Foster BJ, Grasemann H, Hamiwka L, Litalien C, Ng V, Berka N, Campbell P, Daniel C, Saw CL, Tinckam K, Urschel S, Van Driest SL, Parekh R, Mital S . Transplantation (Ma r 1, 2022) 106(3):597–606 Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype‑Phenotype Association. Nguyen MB, Mital S , Mertens L, Jeewa A, Friedberg MK, Aguet J, Adler A, Lam CZ, Dragulescu A, Rakowski H, Villemain O. Journal of the American Heart Association (Mar 2022; EPub : Feb 18, 2022) 11(5 ):e 024220 Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Škorić‑ Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge‑Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller‑ Nurasyid M; KORA‑Study Group; Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos ‑Hesselink JW, Sieswerda GT, Meijboom F, Abdul‑Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al‑Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov‑Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano‑Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens ‑Frederikse WS, Winlaw DS, Bauer UMM, Mital S , Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR. Circulation Research ( Jan 21 , 2022; Epub : Dec 10, 2021) 130(2):166–180 Three tissue resident macrophage subsets coexist across organs with conserved origins and life cycles. Dick SA, Wong A, Hamidzada H, Nejat S, Nechanitzky R, Vohra S, Mueller B, Zaman R, Kantores C, Aronoff L, Momen A, Nechanitzky D, Li WY, Ramachandran P, Crome SQ, Becher B, Cybulsky MI, Billia F, Keshavjee S, Mital S , Robbins CS, Mak TW, Epelman S. Science Immunology (Jan 7, 2022) 7(67):eabf7777 Care processes and structures associated with higher medication adherence in adolescent and young adult transplant recipients. Dabirzadeh A, Dahhou M, Zhang X, Sapir‑ Pichhadze R, Cardinal H, White M, Johnston O, Blydt ‑Hansen T, Tibbles LA, Hamiwka L, Urschel S, Birk P, Matsuda‑Abedini M, Phan V, De Geest S, Allen U, Mital S , Foster BJ. Pediatric Transplantation ( Dec 2021; Epub : Aug 2 , 2021) 25(8 ):e 14106 Rare variants in KDR, encoding VEGF receptor 2, are associated with tetralogy of Fallot. Skoric‑Milosavljevic D, Lahrouchi N, Bosada F, Dombrowsky G, Williams S, Lesurf R , Tjong F, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heidi S, Muir A, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindel K, Rauch A, Brook J, Wilsdon A, Kuipers I, Blom N, Mulder B, Mefford H, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard S, Roberts A, Lodder E, Keavney B, Clur S‑AB, Mital S , Hitz M‑P, Christoffels V, Postma A, Bezzina C. Genetics in Medicine (Oct 2021 ; Epub : Jun 10, 2021 ) 23(10):2013 Selective loss of resident macrophage‑derived insulin‑like growth factor‑1 abolishes adaptive cardiac growth to stress. Zaman R, Hamidzada H, Kantores C, Wong A, Dick SA, Wang Y, Momen A, Aronoff L, Lin J, Razani B, Mital S , Billia P, Lavine KJ, Nejat S, Epelman S. Immunity (Sep 14, 2021 ; Epub : Aug 6, 2021) 54(9):2057–2071 Common deletion variants causing protocadherin‑α deficiency contribute to the complex genetics of bicuspid aortic valve and left‑sided congenital heart disease. Teekakirikul P, Zhu W, Gabriel GC, Young CB, Williams K, Martin LJ, Hill JC, Richards T, Billaud M, Phillippi JA, Wang J, Wu Y, Tan T, Devine W, Lin J‑H, Bais AS, Klonowski J, de Bellaing AM, Saini A, Wang MX, Emerel L, Salamacha N, Wyman SK, Lee C, Li HS, Miron A , Zhang J, Xing J, McNamara DM, Fung E, Kirshbom P, Mahle W, Kochilas LK, He Y, Garg V, White P, McBride K, Benson DW, Gleason TG, Mital S , Lo CW. Human Genetics and Genomics Advances (Jul 2021) 2(3):100037 Lifespan Perspective on Congenital Heart Disease Research: JACC State‑of‑the‑Art Review. Diller GP, Arvanitaki A, Opotowsky AR, Jenkins K, Moons P, Kempny A, Tandon A, Redington A, Khairy P, Mital S , Gatzoulis MA, Li Y, Marelli A. Journal of the American College of Cardiology (May 4, 2021; Epub : Apr 26,2021) 77(17):2219–2235 A Pediatric Perspective on the ACC/AHA Hypertrophic Cardiomyopathy Guidelines. Mital S. Journal of the American College of Cardiology ( Apr 1, 2021) Invited Expert Analysis, American College of Cardiology Heart Failure and Cardiomyopathies Effect of anthracycline therapy on myocardial function and markers of fibrotic remodelling in childhood cancer survivors. Mawad W, Mertens L, Pagano JJ, Riesenkampff E, Reichert MJE, Mital S , Kantor PF, Greenberg M, Liu P, Nathan PC, Grosse‑Wortmann L. European Heart Journal – Cardiovascular Imaging ( Mar 22 , 2021 ) 22(4):435–442 Association between genetic variants in the HIF1A‑VEGF pathway and left ventricular regional myocardial deformation in patients with Hypertrophic Cardiomyopathy. Pieles GE, Alkon J, Manlhiot C, Fan CPS, Kinnear C , Benson LN, Mital S , Friedberg MK. Pediatric Research ( Feb 2021 ; Epub : May 6, 2020 ) 89(3):628–635 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Ommen SR (Chair), Mital S (Vice Chair), Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P. Circulation (Dec 22, 2020; Epub : Nov 20, 2020) 142(25):e558-e631 Machine Learning Identifies Clinical and Genetic Factors Associated with Anthracycline Cardiotoxicity in Pediatric Cancer Survivors. Chaix M, Parmar N, Kinnear C, Lafreniere‑Roula M, Akinrinade O, Yao R, Miron A , Lam E, Meng G, Christie A, Manickaraj AK , Marjerrison S, Dillenburg R, Bassal M, Lougheed J, Zelcer S, Rosenberg H, Hodgson D, Sender L, Kantor P, Manlhiot C, Ellis J, Mertens L, Nathan PC, Mital S. JACC: CardioOncology (Dec 15, 2020) 2(5):690–706 Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients with Elastin Arteriopathy. Min S, Kinnear C , D’Alessandro LCA, Bouwmeester J , Yao R , Chiasson D, Keeley F, Mital S. Circulation: Genomic and Precision Medicine ( Dec 2020; Epub : Sep 22, 2020) 13(6 ):e 002971 Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, Stewart M, Lee S, Moonen JR, Zhang B, Gross feld P, Mital S , Chitayat D, Wu JC, Rabinovitch M, Nelson TJ, Nie S, Wu SM, Gu M. Cell Stem Cell (Oct 1, 2020 ; Epub : Aug 17, 2020 ) 27(4):574–589.e8 A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy. Miron A , Lafreniere‑Roula M , Steve Fan CP, Armstrong KR, Dragulescu A, Papaz T , Manlhiot C, Kaufman B, Butts RJ, Gardin L, Stephenson EA, Howard TS, Aziz PF, Balaji S, Ladouceur VB, Benson LN, Colan SD, Godown J, Henderson HT, Ingles J, Jeewa A, Jefferies JL, Lal AK, Mathew J, Jean‑St‑Michel E, Michels M, Nakano SJ, Olivotto I, Parent JJ, Pereira AC, Semsarian C, Whitehill RD, Wittekind SG, Russell MW, Conway J, Richmond ME, Villa C, Weintraub RG, Rossano JW, Kantor PF, Ho CY, Mital S . Circulation (Jul 21, 2020 ; Epub : May 18, 2020 ) 142(3):217–229 Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. Van Driest SL, Sleeper LA, Gelb BD, Morris SA, Dietz HC, Forbus GA, Goldmuntz E, Hoskoppal A, James J, Lee TM, Levine JC, Li JS, Loeys BL, Markham LW, Meester JAN, Mital S , Mosley JD, Olson AK, Renard M, Shaffer CM, Sharkey A, Young L, Lacro RV, Roden DM. Journal of Pediatrics (Jul 2020) 222:213–220.e5 Everolimus Rescues the Phenotype of Elastin Insufficiency in Patient‑Induced Pluripotent Stem Cell‑Derived Vascular Smooth Muscle Cells. Kinnear C , Agrawal R, Loo C, Pahnke A, Rodrigues DC, Thompson T, Akinrinade O , Ahadian S, Keeley F, Radisic M, Mital S , Ellis J. Arteriosclerosis, Thrombosis, and Vascular Biology (May 2020; Epub : Mar 26, 2020 ) 40(5):1325–1339 Predictors of Bicuspid Aortic Valve‑Associated Aortopathy in Childhood: A Report From the MIBAVA Consortium. Grattan M, Prince A, Rumman RK, Morgan C, Petrovic M, Hauck A, Young L, Franco‑ Cereceda A, Loeys B, Mohamed SA, Dietz H, Mital S , Fan CS, Manlhiot C, Andelfinger G, Mertens L. Circulation: Cardiovascular Imaging (Mar 2020 ; Epub : Mar 17,2020 ) 13(3 ):e 009717 Quality of whole genome sequencing from blood versus saliva‑derived DNA in cardiac patients. Yao RA, Akinrinade O, Chaix M, Mital S. BMC Medical Genomics (Jan 29, 2020) 13(1):11 Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation. Hildebrandt MR, Reuter MS, Wei W, Tayebi N, Liu J, Sharmin S, Mulder J, Lesperance LS, Brauer PM, Mok RSF, Kinnear C , Piekna A, Romm A, Howe J, Pasceri P, Meng G, Rozycki M, Rodrigues DC, Martinez EC, Szego MJ, Zúñiga‑ Pflücker JC, Anderson MK, Prescott SA, Rosenblum ND, Kamath BM, Mital S , Scherer SW, Ellis J. Stem Cell Reports (Dec 10, 2019) 13(6):1126–1141 Family screening for hypertrophic cardiomyopathy: Is it time to change practical guidelines? Lafreniere‑Roula M , Bolkier Y, Zahavich L, Mathew J, George K, Wilson J, Stephenson EA, Benson LN, Manlhiot CM, Mital S. European Heart Journal ( Dec 1 , 2019 ; Epub : Jun6, 2019 ) 40(45):3672-3681 Echocardiographic Assessment of Cardiac Function in Pediatric Survivors of Anthracycline‑Treated Childhood Cancer. Slieker MG, Fackoury C, Slorach C, Hui W, Friedberg MK, Fan CS, Manlhiot C, Dillenburg R, Kantor P, Mital S , Liu P, Nathan PC, Mertens L. Circulation: Cardiovascular Imaging (Dec 2019) 12(12 ):e 008869 Return of genetic and genomic research findings: experience of a pediatric biorepository. Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A , Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano‑Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S . BMC Medical Genomics (Nov 27, 2019) 12(1):173 The landscape of cardiovascular care in pediatric cancer patients and survivors: a survey by the ACC Pediatric Cardio‑Oncology Work Group. Ryan TD, Border WL, Baker‑Smith C, Barac A, Bock MJ, Canobbio MM, Choueiter NF, Chowdhury D, Gambetta KE, Glickstein JS, Kondapalli L, Mital S , Peiris V, Schiff RJ, Spicer RL, Towbin JA, Chen MH. Cardio‑Oncology (Oct 23, 2019) 5:16 To Screen or Not to Screen, That Is the Question. Mital S , Ommen S. Circulation (Jul 16, 2019; Epub : July 15, 2019) 140(3):193–195 Abnormal fetal cerebrovascular development in hypoplastic left heart syndrome. Kinnear C , Haranal M, Shannon P, Jaeggi E, Chitayat D, Mital S. Prenatal Di agnosis (Jan 2019 ; Epub : Dec 27, 2018 ) 39(1):38–44 ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Gould R, Aziz H, Woods C, Sparks E, Preuss C, Wünnemann F, Bjeda D, Moats C, McClymont S, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk H, Lehsau A‑C, Jaskula‑Ranga V, Lauridsen H, Shah A, Bennett C, Ellinor P, Lin H, Isselbacher E, Lino Cardenas C, Butcher J, Hughes GC, Lindsay M, Mertens L, Franco‑ Cereceda A, Verhagen J, Wessels M, Mohamed S, Eriksson P, Mital S, van Laer L, Loeys B, Andelfinger G, McCallion A, Dietz H. Nature Genetic s (Jan 2019 ; Epub : Nov 19, 2018 ) 51(1):42–50 Pediatric Outcomes in Transplant: PersOnaliSing Immunosuppression To ImproVe Efficacy (POSITIVE Study): The Collaboration and Design of a National Transplant Precision Medicine Program. Papaz T, Allen U , Blydt ‑Hansen T, Birk P, Min S , Hamiwka L, Phan V, Schechter‑Finkelstein T, Wall D, Urschel S, Foster BJ, Mital S . Transplantation Direct (Nov 27, 2018) 4(12 ):e 410 Genetic Basis for Congenital Heart Disease: Revisited. Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S , Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW. Circulation ( Nov 20 , 2018) 138(2 1 ): e 653–e711 A randomized clinical trial of age and genotype-guided tacrolimus dosing after pediatric solid organ transplantation. Min S, Papaz T, Lafreniere‑Roula M, Nalli N, Grasemann H, Schwartz SM, Kamath BM, Ng V, Parekh RS, Manlhiot C, Mital S . Pediatric Transplantation (Nov 2018; Epub : Sep 3, 2018) 22(7 ):e 13285 Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy. Zahavich L, Tarnopolsky M, Yao R, Mital S. Circulation: Genomic and Precision Medicine (Oct 2018) 11(10 ):e 002255 Transplant‑Free Survival and Interventions at 6 Years in the Single Ventricle Reconstruction Trial. Newburger JW, Sleeper LA, Gaynor JW, Hollenbeck‑Pringle D, Frommelt PC, Li J, Mahle WT, Williams IA, Atz AM, Burns KM, Chen S, Cnota J, Dunbar‑Masterson C, Ghanayem NS, Goldberg CS, Jacobs JP, Lewis AB, Mital S , Pizarro C, Eckhauser A, Stark P, Ohye RG, for the Pediatric Heart Network Investigators. Circulation (May 22, 2018 ; Epub : Feb 1, 2018 ) 137(21):2246–2253 Pre‑listing predictions of early post‑operative survival in infant heart transplantation using classification and regression tree (CART) analysis. Chen CK, Manlhiot C, Mital S , Schwartz SM, Van Arsdell GS, Caldarone C, McCrindle BW, Dipchand AI. Pediatric Transplantation (Mar 2018 , Epub : Dec 21, 2017 ) 22(2) Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy. Mathew J, Zahavich L, Wilson J, George K, Benson L, Bowdin S, Mital S. Clinical Genetics (Feb 2018; Epub: Dec 26, 2017) 93:310–319 Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? Ouellette AC, Mathew J, Manickaraj AK, Manase G, Zahavich L, Wilson J, George K, Benson L, Bowdin S, Mital S. Clinical Genetics (Jan 2018; Epub : Aug 3, 2017) Candidate Gene Resequencing in a Large Bicuspid Aortic Valve‑Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S , Mertens L, Björck HM, Franco- Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium. Fron tiers in Physiolo gy (Ju n 13, 20 17) 8:400 Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease. Zahavich L, Bowdin S, Mital S. Circulation: Cardiovascular Genetics (Jun 2017) 10(3):e 001581 Perspective on precision medicine in paediatric heart failure. Fridman MD, Mital S . Clinical Science (London) (Mar 1, 2017) 131(6):439–448 Management of Pregnancy in Patients With Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association. Canobbio MM, Warnes CA, Aboulhosn J, Connolly HM, Khanna A, Koos BJ, Mital S , Rose C, Silversides C, Stout K Circulation (Feb 21, 2017; Epub : Jan 12, 2017) 135(8 ):e 50–e87 Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association. Mital S , Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, Hickey KT, Ackerman MJ, Perez MV, Roden DM, Woo D, Fox CS, Ware S; on behalf of the American Heart Association Council on Functional Genomics and Translational Biology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Stroke Council; Council on Lifestyle and Cardiometabolic Health; and Council on Quality of Care and Outcomes Research. Circulation: Cardiovascular Genetics (Oct 2016) 9(5):448–467 Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. Al Teneiji A, Siriwardena K, George K, Mital S, Mercimek‑Mahmutoglu S. Pediatric Neurology (Sep 2016; Epub : Jun 4, 2016) 62:58–61 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Sifrim A, Hitz M‑P, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul‑Khaliq H, Banka S, Bauer UMM, Bentham J, Berger F, Bhattacharya S, Bu’Lock F, Canham N, Colgiu I‑G, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, INTERVAL Study, Kahlert A‑K, Ketley A, Kramer H‑H, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury‑ Ecob R, Omer SO, Ouwehand WH, Park S‑M, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S , Daubeney PEF, Keavney B, Goodship J, Abu‑Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, UK10K Consortium, Deciphering Developmental Disorders Study, Hurles ME. Nature Genetics (Sep 2016; Epub : Aug 1, 2016) 48(9):1060–1065 Avoiding false discovery in biomarker research. Patel P, Kuzmanov U, Mital S. BMC Biochemistry (Jul 30, 2016) 17(1):17 De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S , Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA. PLoS Genetics (Apr 8, 2016) 12(4):e1005963 Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect . D’Alessandro LCA , Al Turki S, Manickaraj AK, Manase D , Mulder BJM, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K; UK10K Consortium; Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. Genetics in Medicine (Feb 2016; Epub : May 21, 2015) 18:189–198 Opportunities for the Cardiovascular Community in the Precision Medicine Initiative. Shah SH, Arnett D, Houser SR, Ginsburg GS, MacRae C, Mital S, Loscalzo J, Hall JL. Circulation ( Jan 12 , 2016) 133(2):226–231 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López- Giráldez F, Tikhonova I, Mane S, Romano- Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S , Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. Science (Dec 4, 2015) 350(6265):1262–1266 Human induced pluripotent stem cell–derived neurons as a model for Williams‑Beuren syndrome. Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross PJ, Hendry J, Mital S , Salter MW, Osborne LR, Ellis J. Molecular Brain ( Nov 24, 2015) 8(1):77 Renin‑angiotensin‑aldosterone system genotype and serum BNP in a contemporary cohort of adults late after Fontan palliation. Burchill LJ, Redington AN, Silversides CK, Ross HJ, Jimenez-Juan L, Mital S , Oechslin EN, Dragulescu A, Slorach C, Mertens L, Wald RM. International Journal of Cardiology (Oct 15, 2015; Epub : Jun 18, 2015) 197:209–215 Congenital heart disease in the older adult: A scientific statement from the American Heart Association. Bhatt AB, Foster E, Kuehl K, Alpert J, Brabeck S, Crumb S, Davidson WR Jr, Earing MG, Ghoshhajra BB, Karamlou T, Mital S , Ting J, Tseng ZH; American Heart Association Council on Clinical Cardiology. Circulation (May 26, 2015; Epub : Apr 20, 2015) 131(21):1884–1931 Adrenergic receptor genotype influences heart failure severity and β‑blocker response in children with dilated cardiomyopathy. Reddy S, Fung A , Manlhiot C, Tierney ES, Chung WK, Blume E, Kaufman BD, Goldmuntz E, Colan SD, Mital S . Pediatric Research (Feb 2015 ; Epub : Nov 19, 2014 ) 77(2):363–369 High throughput exome coverage of clinically relevant cardiac genes. Manase D, D’Alessandro LCA, Manickaraj AK, Al Turki S, Hurles ME, Mital S . BMC Medical Genomics (Dec 11, 2014) 11: 7:67 Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants. Gaynor JW, Kim DS, Arrington CB, Atz AM, Bellinger DC, Burt AA, Ghanayem NS, Jacobs JP, Lee TM, Lewis AB, Mahle WT, Marino BS, Miller SG, Newburger JW, Pizarro C, Ravishankar C, Santani AB, Wilder NS, Jarvik GP, Mital S , Russell MW. The Journal of Thoracic and Cardiovascular Surgery (Dec 2014; Epub : Aug 1, 2014) 148(6):2560–2568 New mechanistic and therapeutic targets for pediatric heart failure: Report from a National Heart, Lung, and Blood Institute Working Group. Burns KM, Byrne BJ, Gelb BD, Kühn B, Leinwand LA, Mital S , Pearson GD, Rodefeld M, Rossano JW, Stauffer BL, Taylor MD, Towbin JA, Redington AN. Circulation (Jul 1, 2014) 130(1):79–86 Transplantation‑free survival and interventions at 3 years in the Single Ventricle Reconstruction Trial. Newburger JW, Sleeper LA, Frommelt PC, Pearson GD, Mahle WT, Chen S, Dunbar‑Masterson C, Mital S, Williams IA, Ghanayem NS, Goldberg CS, Jacobs JP, Krawczeski CD, Lewis AB, Pasquali SK, Pizarro C, Gruber PJ, Atz AM, Khaikin S, Gaynor JW, Ohye RG; for the Pediatric Heart Network Investigators. Circulation ( May 20 , 2014 ; Epub : Apr 4, 2014 ) 1 29(20):2013–2020 Rare variants in NR2F2 cause congenital heart defects in humans. Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D’Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul‑Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O’Kelly IM, Salmon AP, Bu’Lock FA, Granados‑Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DF, UK10K Consortium, Wilson DI, Mital S , Hurles ME. American Journal of Human Genetics (Apr 3, 2014) 94(4):574–585 Risk factors for mortality or delisting of patients from the pediatric heart transplant waiting list. Jeewa A, Manlhiot C, Kantor PF, Mital S , McCrindle BW, Dipchand AI. The Journal of Thoracic and Cardiovascular Surgery (Jan 2014, Epub : Nov 1,2013) 147(1):462–468 Heart failure in congenital heart disease: a confluence of acquired and congenital. Fahed AC, Roberts AE, Mital S , Lakdawala NK. Heart Failure Clinics (Jan 2014) 10(1):219–227 Predictors of disease progression in pediatric dilated cardiomyopathy. Molina KM, Shrader P, Colan SD, Mital S , Margossian R, Sleeper LA, Shirali G, Barker P, Canter CE, Altmann K, Radojewski E, Selamet Tierney ES, Rychik J, Tani LY; for the Pediatric Heart Network Investigators. Circulation: Heart Failure (Nov 2013 ; Epub : Oct 16, 2013 ) 6(6):1214–1222 Stem cells in pediatric cardiology. Patel P, Mital S. European Journal of Pediatrics (Oct 2013 ; Epub : Jan 5, 2013 ) 172(10):1287–1292 Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation. Gaber N , Gagliardi M, Patel P, Kinnear C , Zhang C, Chitayat D, Shannon P, Jaeggi E, Tabori U, Keller G, Mital S. The American Journal of Pathology (Sep 2013; Epub Jul 17,2013) 183(3):720–734 Identification of deleterious synonymous variants in human genomes. Buske OJ, Manickaraj A, Mital S, Ray PN, Brudno M. Bioinformatics (Oxford) (Aug 1, 2013; Epub : Jun 4, 2013) 29(15):1843–1850 Genome‑wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Cordell HJ, Bentham J, Töpf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados‑Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AFM, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, Dos Remedios C, Bishopric NH, Bezzina CR, O’Sullivan J, Gewillig M, Bu’Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJM, Mital S , Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Nature Genetics (Jul 2013; Epub : May 26, 2013) 45(7):822–824 Impact of prenatal risk factors on congenital heart disease in the current era. Fung A, Manlhiot C, Naik S, Rosenberg H, Smythe J, Lougheed J, Mondal T, Chitayat D, McCrindle BW, Mital S. Journal of the American Heart Association (May 31, 2013) 2(3):e 000064 Personalized medicine in the care of the child with congenital heart disease: Discovery to application. Binesh Marvasti T, D’Alessandro LCA , Manase D, Papaz T, Mital S . Congenital Heart Disease (May 2013; Epub : Apr 22, 2013) 8(3):266–269 Genome‑wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados‑Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJM, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu’Lock FA, Thornborough C, O’Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S , Gewillig M, Breckpot J, Devriendt K, Moorman AFM, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Human Molecular Genetics (Apr 1, 2013; Epub : Jan 7, 2013) 22(7):1473–1481 Modeling and rescue of the vascular phenotype of Williams‑Beuren syndrome in patient induced pluripotent stem cells . Kinnear C , Chang WY, Khattak S, Hinek A, Thompson T, de Carvalho Rodrigues D, Kennedy K , Mahmut N, Pasceri P, Stanford WL, Ellis J, Mital S. Stem Cells Translational Medicine (Jan 2013; Epub : Dec 21, 2012) 2(1):2–15 Genetic variations in hypoxia response genes influence hypertrophic cardiomyopathy phenotype . Alkon J, Friedberg MK, Manlhiot C, Manickaraj AK, Kinnear C , McCrindle BW, Benson LN, Addonizio LJ, Colan SD, Mital S. Pediatric Research (Dec 2012 ; Eub : Sep 24, 2012 ) Factors influencing participation in a population‑based biorepository for childhood heart disease. Papaz T, Safi M , Manickaraj AK, Ogaki C , Breaton Kyryliuk J, Burrill L, Dodge C, Chant‑ Gambacort C, Walter LL, Rosenberg H, Mondal T, Smythe J, Lougheed J, Bergin L, Gordon E, Chitayat D, Oechslin E, Mital S. Pediatrics (Nov 2012 ; Epub : Oct 8, 2012 ) 130(5 ):e 1198–e1205 Genetic determinants of right‑ventricular remodeling after tetralogy of Fallot repair. Jeewa A, Manickaraj AK , Mertens L, Manlhiot C, Kinnear C , Mondal T, Smythe J, Rosenberg H, Lougheed J, McCrindle BW, van Arsdell G, Redington AN, Mital S. Pediatric Research (Oct 2012; Epub : July 13, 2012) 72(4):407–413 Personalized medicine in pediatric cardiology: Do little changes make a big difference? Manickaraj AK, Mital S. Current Opinion in Pediatrics (Oct 2012) 24(5):584–591 Cardiac transplantation in Friedreich ataxia. Yoon G, Soman T, Wilson J, George K, Mital S , Dipchand AI, McCabe J, Logan W, Kantor P. Journal of Child Neurology (Sep 2012 ; Jun 29, 2012 ) 27(9):1193–1196 Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: The Single Ventricle Reconstruction Trial. Newburger JW, Sleeper LA, Bellinger DC, Goldberg CS, Tabbutt S, Lu M, Mussatto KA, Williams IA, Gustafson KE, Mital S , Pike N, Sood E, Mahle WT, Cooper DS, Dunbar‑Masterson C, Krawczeski CD, Lewis A, Menon SC, Pemberton VL, Ravishankar C, Atz TW, Ohye RG, Gaynor JW; for the Pediatric Heart Network Investigators. Circulation (May 1, 2012; Epub : Mar 28, 2012) 125(17):2081–2091 Personalized Medicine in the Genomics Era: Highlights from an international symposium on childhood heart disease. Farra N, Manickaraj AK , Ellis J, Mital S. Future Cardiology (Mar 2012) 8(2):157–160 Age and CYP3A5 genotype affect tacrolimus dosing requirements after transplant in pediatric heart recipients. Gijsen V, Mital S , van Schaik RH, Soldin OP, Soldin SJ, van der Heiden IP, Nulman I, Koren G, de Wildt SN. The Journal of Heart and Lung Transplantation (Dec 2011 ; Epub : Sep 17, 2011 ) 30(12):1352–1359 Current applications and future needs for biomarkers in pediatric cardiomyopathy and heart failure: Summary from the Second International Conference on Pediatric Cardiomyopathy. Kantor PF, Rusconi P, Lipshultz S, Mital S , Wilkinson JD, Burch M. Progress in Pediatric Cardiology ( Aug 1, 2011 ) 32(1):11–14 Genetic counseling in the adult with congenital heart disease: What is the role? Burchill L, Greenway S, Silversides CK, Mital S . Current Cardiology Reports (Aug 2011) 13(4):347–355 Personalizing medicine for the child with heart disease: A path forward. Mital S. Journal of Cardiovascular Pharmacology (Jul 2011) 58(1):1–3 Heart transplantation in children with markedly elevated pulmonary vascular resistance: Impact of right ventricular failure on outcome. Ofori‑ Amanfo G, Hsu D, Lamour JM, Mital S, O’Byrne ML, Smerling AJ, Chen JM, Mosca R, Addonizio LJ. The Journal of Heart and Lung Transplantation (Jun 2011 ; Epub : Jan22, 2011 ) 30(6):659–666 Renin‑angiotensin‑aldosterone genotype influences ventricular remodeling in infants with single ventricle. Mital S , Chung WK, Colan SD, Sleeper LA, Manlhiot C, Arrington CB, Cnota JF, Graham EM, Mitchell ME, Goldmuntz E, Mahle WT, Shirali GS, Rychik J, Gaynor JW, Ohye RG; for the Pediatric Heart Network Investigators. Circulation (May 31, 2011; Epub : May 16, 2011) 123(21):2353–2362 Increased short‑ and long‑term mortality at low‑volume pediatric heart transplant centers: Should minimum standards be set? Davies RR, Russo MJ, Hong KN, Mital S , Mosca RS, Quaegebeur JM, Chen JM. Annals of Surgery (Feb 2011) 253(2):393–401 Clinical research careers: Reports from an NHLBI Pediatric Heart Network clinical research skills development conference. Lai WW, Vetter VL, Richmond M, Li JS, Saul JP, Mital S, Colan SD, Newburger JW, Sleeper LA, McCrindle BW, Minich LL, Goldmuntz E, Marino BS, Williams IA, Pearson GD, Evans F, Scott JD, Cohen MS. American Heart Journal (Jan 2011) 161(1):13–67Enalapril in infants with single ventricle: results of a multicenter randomized trial. Hsu DT, Zak V, Mahony L, Sleeper LA, Atz AM, Levine JC, Barker PC, Ravishankar C, McCrindle BW, Williams RV, Altmann K, Ghanayem NS, Margossian R, Chung WK, Border WL, Pearson GD, Stylianou MP, Mital S; Pediatric Heart Network Investigators. Circulation (Jul 27, 2010; Epub: Jul 12, 2010) 122(4):333–340 Comparison of shunt types in the Norwood procedure for single-ventricle lesions. Ohye RG, Sleeper LA, Mahony L, Newburger JW, Pearson GD, Lu M, Goldberg CS, Tabbutt S, Frommelt PC, Ghanayem NS, Laussen PC, Rhodes JF, Lewis AB, Mital S, Ravishankar C, Williams IA, Dunbar-Masterson C, Atz AM, Colan S, Minich LL, Pizarro C, Kanter KR, Jaggers J, Jacobs JP, Krawczeski CD, Pike N, McCrindle BW, Virzi L, Gaynor JW; Pediatric Heart Network Investigators. New England Journal of Medicine (May 27, 2010) 362(21):1980–1992 Common variation in ISL1 confers genetic susceptibility for human congenital heart disease Stevens KN, Hakonarson H, Kim CE, Doevendans PA, Koeleman BP, Mital S , Raue J, Glessner JT, Coles JG, Moreno V, Granger A, Gruber SB, Gruber PJ. PLoS One (May 26, 2010) 5(5):e10855 Relationship between a validated molecular cardiac transplant rejection classifier and routine organ function parameters. Cadeiras M, Shahzad K, John MM, Gruber D, Bayern Mv, Auerbach S, Sinha A, Latif F, Unniachan S, Memon S, Mital S , Restaino S, Marboe CC, Addonizio LJ, Deng MC. Clinical Transplantation (May-Jun 2010; Epub: Aug 27, 2009) 24(3):321–327 Birth weight and prematurity in infants with single ventricle physiology: pediatric heart network infant single ventricle trial screened population Williams RV, Ravishankar C, Zak V, Evans F, Atz AM, Border WL, Levine J, Li JS, Mahony L, Mital S, Pearson GD, Prakash A, Hsu DT; Pediatric Heart Network Investigators. Congenital Heart Disease (Mar-Apr 2010) 5(2):96–103 Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: introduction. Marelli A, Beauchesne L, Mital S , Therrien J, Silversides CK. Canadian Journal of Cardiology (Mar 2010) 26(3):e65–e69 Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: executive summary. Silversides CK, Marelli A, Beauchesne L, Dore A, Kiess M, Salehian O, Bradley T, Colman J, Connelly M, Harris L, Khairy P, Mital S , Niwa K, Oechslin E, Poirier N, Schwerzmann M, Taylor D, Vonder Muhll I, Baumgartner H, Benson L, Celermajer D, Greutmann M, Horlick E, Landzberg M, Meijboom F, Mulder B, Warnes C, Webb G, Therrien J. Canadian Journal of Cardiology (Mar 2010) 26(3):143–150 Partial and transitional atrioventricular septal defect outcomes. Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators. Annals of Thoracic Surgery (Feb 2010) 89(2):530–536 Recipient genotype is a predictor of allograft cytokine expression and outcomes after pediatric cardiac transplantation. Auerbach SR, Manlhiot C, Reddy S, Kinnear C , Richmond ME, Gruber D, McCrindle BW, Deng L, Chen JM, Addonizio LJ, Chung WK, Mital S. Journal of the American College of Cardiology (May 19, 2009) 53(20):1909–1917 Rationale and design of a trial of angiotensin-converting enzyme inhibition in infants with single ventricle. Hsu DT, Mital S , Ravishankar C, Margossian R, Li JS, Sleeper LA, Williams RV, Levine JC, McCrindle BW, Atz AM, Servedio D, Mahony L; Pediatric Heart Network Investigators. American Heart Journal (Jan 2009) 157(1):37–45 Genomic profiling of left and right ventricular hypertrophy in congenital heart disease. Kaufman BD, Desai M, Reddy S, Osorio JC, Chen JM, Mosca RS, Ferrante AW, Mital S. Journal of Cardiac Failure (Nov 2008; Epub: Jul 15, 2008) 14(9):760–767 Simvastatin reverses cardiac hypertrophy caused by disruption of the bradykinin 2 receptor. Osorio JC, Cheema FH, Martens TP, Mahmut N, Kinnear C , Gonzalez AM, Bonney W, Homma S, Liao JK, Mital S. Canadian Journal of Physiology and Pharmacology (Sep 2008) 86(9):633–642 A cross-sectional study of exercise performance during the first 2 decades of life after the Fontan operation. Paridon SM, Mitchell PD, Colan SD, Williams RV, Blaufox A, Li JS, Margossian R, Mital S , Russell J, Rhodes J. Journal of the American College of Cardiology (Jul 8, 2008) 52(2):99–107 Somatic growth in children with single ventricle physiology impact of physiologic state. Vogt KN, Manlhiot C, Van Arsdell G, Russell JL, Mital S, McCrindle BW. Journal of the American College of Cardiology (Nov 6, 2007; Epub: Oct 23, 2007) 50(19):1876–1883 Value of surveillance biopsy in pediatric heart transplantation. Mital S. Pediatric Transplantation (May 2007) 11(3):233–235 Go to Top 