Recent Faculty Research Publications

• 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. Proc Natl Acad Sci U S A. 2025 Apr; 2025 Mar 24. PMID: 40127276.
• Many Pediatric Subspecialty Fellows Are Not Ready to Graduate From Fellowship in 2 Years.Pitts S, Schwartz A, Langhan ML, High P, James SH, Karnik R, Aye T, Boyer DL, Stafford DEJ, Rama JA, Robinson BW, Hsu D, Moffatt ME, Sauer C, Mehta JJ, Atlas MP, McGann KA, Chess PR, Curran ML, Weiss P, Mahan JD, McFadden V, Kamin DS, Kesselheim J, Czaja AS, Dammann CEL, Fussell J, George RP, Herman BE, Lopez MA, Torres O, Turner DA, Mink R. Pediatrics. 2025 Apr 1. PMID: 40090359.
• Cardiac treatment for Duchenne muscular dystrophy: consensus recommendations from the ACTION muscular dystrophy committee.Esteso P, Auerbach SR, Bansal N, Harris R, Soslow JH, Birnbaum BF, Conway J, Cripe LH, Nandi D, Hayes E, Gambetta KE, Hall EK, Hsu DT, Kaufman BD, Rosenthal D, Kirmani S, Ploutz MS, Lal AK, Peng DM, Villa CR, Shugh S, Wittlieb-Weber CA, Shih R. Cardiol Young. 2025 Apr; 2025 Feb 27. PMID: 40012319.
• 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. Proc Natl Acad Sci U S A. 2025 Mar 11; 2025 Mar 3. PMID: 40030011.
• Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.Ward T, Morton SU, Venturini G, Tai W, Jang MY, Gorham J, Delaughter D, Wasson LK, Khazal Z, Homsy J, Gelb BD, Chung WK, Bruneau BG, Brueckner M, Tristani-Firouzi M, DePalma SR, Seidman C, Seidman JG. J Am Heart Assoc. 2025 Mar 4; 2025 Mar 3. PMID: 40028843.
• Single ventricle palliation in congenitally corrected transposition of the great arteries: An international multicenter study.Kalfa DM, Buratto E, Bacha EA, Belli E, Barron DJ, Ly M, Nield L, McLeod C, Khairy P, Babu-Narayan SV, Kowalik E, Elder RW, Baruteau AE. J Thorac Cardiovasc Surg. 2025 Mar; 2024 Sep 14. PMID: 39278615.
• Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.Mondragon-Estrada E, Newburger JW, DePalma SR, Brueckner M, Cleveland J, Chung WK, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, McQuillen P, Miller TA, Panigrahy A, Porter GA Jr, Roberts AE, Rollins CK, Russell MW, Tristani-Firouzi M, Grant PE, Im K, Morton SU. iScience. 2025 Feb 21; 2024 Dec 28. PMID: 39877905.
• Improving Palivizumab Administration to High-Risk Infants with Heart Disease via a Communication-Based Quality Improvement Initiative.Leone DM, Rodriguez A, Cowenhoven K, O'Connell M, Grossman M, Ferdman D. Pediatr Cardiol. 2025 Feb; 2024 Feb 1. PMID: 38300318.
• Prenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region.Haxel CS, Wang A, Levine JC, Drucker N, Hart MR, Glatz JA, Ferdman D, Karnik R, Tsirka A, Arya P, Doherty M, Laraja K, Hagenbuch S, Rotondo KM. Pediatr Cardiol. 2025 Jan 23; 2025 Jan 23. PMID: 39849107.
• Fully biologic endothelialized-tissue-engineered vascular conduits provide antithrombotic function and graft patency.Park J, Riaz M, Qin L, Zhang W, Batty L, Fooladi S, Kural MH, Li X, Luo H, Xu Z, Wang J, Banno K, Gu SX, Yuan Y, Anderson CW, Ellis MW, Zhou J, Luo J, Shi X, Shin JH, Liu Y, Lee S, Yoder MC, Elder RW, Mak M, Thorn S, Sinusas A, Gruber PJ, Hwa J, Tellides G, Niklason LE, Qyang Y. Cell Stem Cell. 2025 Jan 2; 2024 Dec 6. PMID: 39644899.
• Kabuki Syndrome.Neumann D, Karnik R. 2025 Jan. PMID: 38917269.
• Minimum Supervision Levels Required for Pediatric Cardiology Fellowship Graduation by Pediatric Cardiology Fellowship Program Directors.Karnik R, Robinson B, Glickstein J, Schwartz A, Mink R, Neal AE, Frank LH, McMahon CJ, Kim ME, Turner DA, Srivastava S. Pediatr Cardiol. 2025 Jan; 2023 Dec 20. PMID: 38117291.
• Calcium channel blockers and beta blockers in pediatric supraventricular tachycardia.Sullivan J, Pompa AG, Schieber J, Arora G, Dionne A, Beach C. J Cardiovasc Electrophysiol. 2024 Nov; 2024 Sep 23. PMID: 39313851.
• Longitudinal Assessment of Left Ventricular Function in Patients with Myopericarditis After mRNA COVID-19 Vaccination.Nv B, McCollum S, Faherty E, Steele JM, Karnik R. Pediatr Cardiol. 2024 Oct; 2023 Jun 9. PMID: 37294336.
• Life and Death: A Multicenter Study Evaluating Cardiologists' Approach to Difficult Conversations with Fontan Patients and Families.Lee S, Rathod RH, Valente AM, Davey BT, Wu F, Drucker N, Lombardi K, St Clair N, Azcue N, Toro-Salazar OH, Elder RW. Pediatr Cardiol. 2024 Aug 20; 2024 Aug 20. PMID: 39164409.
• Association Between High-Sensitivity Troponin (hs-cTnT) and Diagnosis of Myocarditis in Previously Healthy Pediatric Patients.Degen M, Leviter J, Bradley A, Karnik R, Ferdman D, McCollum S, Faherty E. Pediatr Cardiol. 2024 Aug 10; 2024 Aug 10. PMID: 39126513.
• Implementing Entrustable Professional Activities in Pediatric Fellowships: Facilitating the Process.Langhan ML, Boyer DL, Hsu D, Moffatt ME, Pitts SA, Atlas MP, Aye T, Chess P, Curran ML, Czaja AS, Dammann CEL, Fussell J, George RP, Herman BE, High P, James SH, Kamin DS, Karnik R, Kesselheim J, Lopez MA, Mahan JD, McFadden V, McGann KA, Mehta JJ, Rama J, Robinson BW, Sauer C, Stafford DEJ, Turner DA, Weiss P, Yussman SM, Schwartz A, Mink R. Pediatrics. 2024 Jun 1. PMID: 38757175.
• De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE, Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Am J Hum Genet. 2024 Apr 4; 2024 Mar 12. PMID: 38479391.
• Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2024 Mar 19; 2024 Mar 11. PMID: 38466853.
• Thoracic aortic aneurysm in an adolescent with intraoperative discovery of contained rupture: a case report.Lee ME, Boules H, Steele J, Asnes J, Assi R. AME Case Rep. 2024; 2024 Mar 14. PMID: 38711883.
• Doubly unusual in double discordance: Appendage-based accessory pathway in congenitally corrected transposition.Beach CM, Vinocur JM. HeartRhythm Case Rep. 2024 Mar; 2024 Jan 3. PMID: 38496739.
• Association of genetic and sulcal traits with executive function in congenital heart disease.Maleyeff L, Newburger JW, Wypij D, Thomas NH, Anagnoustou E, Brueckner M, Chung WK, Cleveland J, Cunningham S, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, King E, McQuillen P, Miller TA, Norris-Brilliant A, Porter GA Jr, Roberts AE, Grant PE, Im K, Morton SU. Ann Clin Transl Neurol. 2024 Feb; 2023 Nov 27. PMID: 38009418.
• Identifying Gender and Racial Bias in Pediatric Fellowship Letters of Recommendation: Do Word Choices Influence Interview Decisions?Boolchandani H, Chen L, Elder RW, Osborn R, Phatak UP, Puthenpura V, Sheares BJ, Tiyyagura G, Amster L, Lee S, Langhan ML. J Pediatr. 2024 Feb; 2023 Nov 22. PMID: 37995931.
• How Good Are Cardiologists at Predicting Major Adverse Events in Fontan Patients?Elder RW, Valente AM, Davey B, Wu F, Drucker N, Lombardi K, Lee S, McCollum S, Shabanova V, St Clair N, Azcue N, Toro-Salazar OH, Rathod RH. JACC Adv. 2024 Jan; 2023 Nov 24. PMID: 38939804.
• SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW. Int J Mol Sci. 2023 Dec 28; 2023 Dec 28. PMID: 38203602.
• The H2Bub1-deposition complex is required for human and mouse cardiogenesis.Barish S, Berg K, Drozd J, Berglund-Brown I, Khizir L, Wasson LK, Seidman CE, Seidman JG, Chen S, Brueckner M. Development. 2023 Dec 1; 2023 Dec 1. PMID: 38038666.
• Advances in Cardiac Implantable Electronic Devices and Congenital Heart Disease.Beach CM, Shah MJ. Card Electrophysiol Clin. 2023 Dec; 2023 Sep 4. PMID: 37865527.
• The Evolving Role of Insertable Cardiac Monitors in Patients with Congenital Heart Disease.Beach CM, Richardson C, Paul T. Card Electrophysiol Clin. 2023 Dec; 2023 Jul 16. PMID: 37865515.
• Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK. Physiol Genomics. 2023 Dec 1; 2023 Oct 9. PMID: 37811720.
• Multicenter retrospective evaluation of magnetic resonance imaging in pediatric and congenital heart disease patients with cardiac implantable electronic devices.Gakenheimer-Smith L, Ou Z, Kuang J, Moore JP, Burrows A, Kovach J, Dechert B, Beach CM, Ayers M, Tan RB, Mostafavifar M, Mah DY, Conner TM, Turpin S, Avasarala K, Shah MJ, Webster G, Posey J, Etheridge SP, Binka E, Niu M, Asaki SY, Lambert LM, Pilcher TA. Heart Rhythm. 2023 Dec; 2023 Aug 28. PMID: 37648183.
• Right ventricular outflow tract obstruction associated with neointimal tissue accumulation and distortion of the Harmony TPV25 stent frame: Potential mechanisms and treatment.Steinberg ZL, Cabalka AK, Balzer DT, Asnes JD, Morray BH, Gillespie MJ, McElhinney DB. Catheter Cardiovasc Interv. 2023 Nov; 2023 Nov 5. PMID: 37925624.
• Words Used in Letters of Recommendation for Pediatric Residency Applicants: Demographic Differences and Impact on Interviews.Boolchandani H, Osborn R, Tiyyagura G, Sheares B, Chen L, Phatak UP, Puthenpura V, Elder RW, Lee S, Amster L, Langhan ML. Acad Pediatr. 2023 Nov-Dec; 2023 Mar 6. PMID: 36889506.
• Unique clinical challenges for the teenager with congenital heart disease.Pastor T, Elder RW. Curr Opin Pediatr. 2023 Oct 1; 2023 Aug 8. PMID: 37700620.
• Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ. Eur Heart J. 2023 Sep 14. PMID: 37528649.
• 1-Year Outcomes in a Pooled Cohort of Harmony Transcatheter Pulmonary Valve Clinical Trial Participants.Gillespie MJ, McElhinney DB, Jones TK, Levi DS, Asnes J, Gray RG, Cabalka AK, Fujimoto K, Qureshi AM, Justino H, Bergersen L, Benson LN, Haugan D, Boe BA, Cheatham JP. JACC Cardiovasc Interv. 2023 Aug 14; 2023 May 17. PMID: 37278682.
• Comprehensive Multimodality Imaging of Congenitally Corrected Transposition of the Great Arteries Incidentally Found to Have Coronary Ischemia.Sasse A, Feher A, Thorn S, Fahey J, Keeshan B, Sinusas A, Mojibian H, Steele J. Circ Cardiovasc Imaging. 2023 Jul; 2023 Apr 24. PMID: 37092334.
• Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study.Cohen J, Arya B, Caplan R, Donofrio MT, Ferdman D, Harrington JK, Ho DY, Hogan W, Hornberger LK, Jhaveri S, Killen SAS, Lindblade CL, Michelfelder E, Moon-Grady AJ, Patel S, Quezada E, Ronai C, Sanchez Mejia AA, Schidlow DN, Stiver C, Thakur V, Srivastava S. J Am Heart Assoc. 2023 Jun 6; 2023 Jun 1. PMID: 37259984.
• Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Circ Genom Precis Med. 2023 Jun; 2023 May 11. PMID: 37165897.
• Cytokinopathy with aberrant cytotoxic lymphocytes and profibrotic myeloid response in SARS-CoV-2 mRNA vaccine-associated myocarditis.Barmada A, Klein J, Ramaswamy A, Brodsky NN, Jaycox JR, Sheikha H, Jones KM, Habet V, Campbell M, Sumida TS, Kontorovich A, Bogunovic D, Oliveira CR, Steele J, Hall EK, Pena-Hernandez M, Monteiro V, Lucas C, Ring AM, Omer SB, Iwasaki A, Yildirim I, Lucas CL. Sci Immunol. 2023 May 12; 2023 May 5. PMID: 37146127.
• Heart Rhythm Society Membership Committee Viewpoint: Update and current initiatives.Heist EK, Stephenson E, Arujuna A, Dechert-Crooks B, Fu J, Linker N, Mason P, Meyers-Laplace T, Nedios S, Patel AM, Sabin D, Tsiperfal A, Varkey S, Vegso J, Beach C. Heart Rhythm. 2023 May. PMID: 37120290.
• Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2023 Apr 18; 2023 Apr 12. PMID: 37043537.
• 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. Circ Genom Precis Med. 2023 Apr; 2023 Mar 3. PMID: 36866680.
• Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Circ Genom Precis Med. 2023 Apr; 2023 Feb 21. PMID: 36803080.
• Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Genet Med. 2023 Apr; 2022 Dec 5. PMID: 36473599.
• Optimizing pre-participation screening to prevent tragedy in young athletes: moving from if to how.Beach CM, Lampert R. Eur Heart J. 2023 Mar 21. PMID: 36760103.
• Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.Li Y, Xu W, Makova S, Brueckner M, Sun Z. Elife. 2023 Mar 15; 2023 Mar 15. PMID: 36920028.
• B-complex vitamins for patients with TANGO2-deficiency disorder.Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. J Inherit Metab Dis. 2023 Mar; 2022 Dec 30. PMID: 36550018.
• Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry.Djenoune L, Mahamdeh M, Truong TV, Nguyen CT, Fraser SE, Brueckner M, Howard J, Yuan S. Science. 2023 Jan 6; 2023 Jan 5. PMID: 36603098.
• Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.Morton SU, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller TA, Thomas NH, Liu C, Adams HR, Bellinger DC, Cleveland J, Cnota JF, Dale AM, Frommelt M, Gelb BD, Grant PE, Goldberg CS, Huang H, Kuperman JM, Li JS, McQuillen PS, Panigrahy A, Porter GA Jr, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Anagnoustou E, Hagler DJ Jr, Chung WK, Newburger JW. JAMA Netw Open. 2023 Jan 3; 2023 Jan 3. PMID: 36701153.
• Lyme carditis presenting as paroxysmal junctional tachycardia and complete atrioventricular block in an adolescent.Beach CM, Stewart E, Marcuccio E, Beerman L, Arora G. J Electrocardiol. 2023 Jan-Feb; 2022 Nov 4. PMID: 36372012.
• Noonan syndrome and pregnancy outcomes.Chow CA, Campbell KH, Chou JC, Elder RW. Cardiol Young. 2022 Dec; 2022 Jan 17. PMID: 35034678.
• Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review.Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C. Heart Rhythm. 2022 Nov; 2022 Oct 11. PMID: 37850595.
• Short-Term Outcomes After Myopericarditis Related to COVID-19 Vaccination.Pareek M, Steele J, Asnes J, Baldassarre LA, Casale LR, Desai NR, Elder RW, Faherty E, Ferguson I, Fishman RF, Ghazizadeh Z, Glick LR, Hall EK, Khera R, Kokkinidis DG, Kwan JM, O'Marr J, Schussheim A, Tuohy E, Wang Y, Spatz ES, Jacoby D, Miller EJ. JACC Cardiovasc Imaging. 2022 Nov; 2022 May 11. PMID: 36357140.
• Unrepaired Maternal Vein of Galen Malformation in Pregnancy: A Case Report.Ackerman-Banks CM, Fardelmann KL, Lam D, Simmons MA, Elder RW, Matouk C, Campbell KH. A A Pract. 2022 Oct 1; 2022 Oct 25. PMID: 36599040.
• Editorial: Keeping us all healthy and well.Friedman AH. Curr Opin Pediatr. 2022 Oct 1. PMID: 36101922.
• Coronavirus disease 2019 and the young heart: prevention, treatment, and return to play.Beach CM, Faherty E, Pesce M. Curr Opin Pediatr. 2022 Oct 1; 2022 Aug 29. PMID: 36036422.
• Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Heart Rhythm. 2022 Oct; 2022 May 11. PMID: 35568137.
• Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome.Brink BD, Feinn R, Kozel BA, Billington CJ Jr, Liu D, Yu E, Sindhar S, He J, Rouse C, Lampert R, Pober BR, Elder RW. Pediatr Cardiol. 2022 Oct; 2022 Apr 2. PMID: 35366065.
• Electromagnetic interference complicating Impella(®) use during pediatric ablation.Sullivan JS, Maitoza LA, Brysiewicz NR, Hall EK, Beach CM. Ann Pediatr Cardiol. 2022 Sep-Dec; 2023 Mar 1. PMID: 37152518.
• Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. PLoS Genet. 2022 Jun; 2022 Jun 7. PMID: 35671298.
• Quantifying concordant genetic effects of de novo mutations on multiple disorders.Guo H, Hou L, Shi Y, Jin SC, Zeng X, Li B, Lifton RP, Brueckner M, Zhao H, Lu Q. Elife. 2022 Jun 6; 2022 Jun 6. PMID: 35666111.
• T Cell Response to Influenza Vaccination Remains Intact in Adults with Congenital Heart Disease Who Underwent Early Thymectomy.Leone DM, Park HJ, Unlu S, Gurvitz M, Kang I, Elder RW. Int J Cardiol Congenit Heart Dis. 2022 Jun; 2022 Mar 25. PMID: 35600131.
• Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.Tortigue M, Nield LE, Karakachoff M, McLeod CJ, Belli E, Babu-Narayan SV, Prigent S, Boet A, Conway M, Elder RW, Ladouceur M, Khairy P, Kowalik E, Kalfa DM, Barron DJ, Mussa S, Hiippala A, Temple J, Abadir S, Le Gloan L, Lachaud M, Sanatani S, Thambo JB, Gronier CG, Amedro P, Vaksmann G, Charbonneau A, Koutbi L, Ovaert C, Houeijeh A, Combes N, Maury P, Duthoit G, Hiel B, Erickson CC, Bonnet C, Van Hare GF, Dina C, Karsenty C, Fournier E, Le Bloa M, Pass RH, Liberman L, Happonen JM, Perry JC, Romefort B, Benbrik N, Hauet Q, Fraisse A, Gatzoulis MA, Abrams DJ, Dubin AM, Ho SY, Redon R, Bacha EA, Schott JJ, Baruteau AE. Circ Genom Precis Med. 2022 Jun; 2022 May 12. PMID: 35549293.
• Mutation spectrum of congenital heart disease in a consanguineous Turkish population.Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan-Sencicek AG, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mol Genet Genomic Med. 2022 Jun; 2022 Apr 28. PMID: 35481623.
• Opportunities to enhance parental well-being during prenatal counseling for congenital heart disease.Tacy TA, Kasparian NA, Karnik R, Geiger M, Sood E. Semin Perinatol. 2022 Jun; 2022 Mar 13. PMID: 35461701.
• Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION.Villa C, Auerbach SR, Bansal N, Birnbaum BF, Conway J, Esteso P, Gambetta K, Hall EK, Kaufman BD, Kirmani S, Lal AK, Martinez HR, Nandi D, O'Connor MJ, Parent JJ, Raucci FJ, Shih R, Shugh S, Soslow JH, Tunuguntla H, Wittlieb-Weber CA, Kinnett K, Cripe L. Pediatr Cardiol. 2022 Jun; 2022 Jan 13. PMID: 35024902.
• Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Am J Hum Genet. 2022 May 5; 2022 Apr 8. PMID: 35397206.
• 2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients: Executive Summary.Silka MJ, Shah MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Corcia MCG, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Bergen NHV, Wackel PL. Ann Pediatr Cardiol. 2022 May-Jun; 2022 Nov 16. PMID: 36589659.
• An unusual cause of repolarization abnormality after congenital heart surgery: A case report.Barresi NV, Marcus BS, Beach CM, Vinocur JM. J Electrocardiol. 2022 May-Jun; 2022 Mar 26. PMID: 35395484.
• A randomized phase 2 trial of azacitidine with or without durvalumab as first-line therapy for higher-risk myelodysplastic syndromes.Zeidan AM, Boss I, Beach CL, Copeland WB, Thompson E, Fox BA, Hasle VE, Ogasawara K, Cavenagh J, Silverman LR, Voso MT, Hellmann A, Tormo M, O'Connor T, Previtali A, Rose S, Garcia-Manero G. Blood Adv. 2022 Apr 12. PMID: 34972214.
• A randomized phase 2 trial of azacitidine with or without durvalumab as first-line therapy for older patients with AML.Zeidan AM, Boss I, Beach CL, Copeland WB, Thompson E, Fox BA, Hasle VE, Hellmann A, Taussig DC, Tormo M, Voso MT, Cavenagh J, O'Connor T, Previtali A, Rose S, Silverman LR. Blood Adv. 2022 Apr 12. PMID: 34933333.
• Approach to Wide Complex Tachycardia in Paediatric Patients.Escudero CA, Tan RBM, Beach CM, Dalal AS, LaPage MJ, Hill AC. CJC Pediatr Congenit Heart Dis. 2022 Apr; 2022 Feb 25. PMID: 37969244.
• Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Circ Genom Precis Med. 2022 Apr; 2022 Feb 7. PMID: 35130025.
• Longitudinal Assessment of Global and Regional Left Ventricular Strain in Patients with Multisystem Inflammatory Syndrome in Children (MIS-C).He M, Leone DM, Frye R, Ferdman DJ, Shabanova V, Kosiv KA, Sugeng L, Faherty E, Karnik R. Pediatr Cardiol. 2022 Apr; 2022 Jan 7. PMID: 34993558.
• A change of heart: new roles for cilia in cardiac development and disease.Djenoune L, Berg K, Brueckner M, Yuan S. Nat Rev Cardiol. 2022 Apr; 2021 Dec 3. PMID: 34862511.
• Robotic mitral valve repair in a patient with cardiac dextroversion.Bourdillon A, Elder R, Lalonde M, Steele J, Gruber PJ, Geirsson A. JTCVS Tech. 2022 Feb; 2021 Oct 23. PMID: 35169722.
• Long-Term Outcomes After Melody Transcatheter Pulmonary Valve Replacement in the US Investigational Device Exemption Trial.Jones TK, McElhinney DB, Vincent JA, Hellenbrand WE, Cheatham JP, Berman DP, Zahn EM, Khan DM, Rhodes JF Jr, Weng S, Bergersen LJ. Circ Cardiovasc Interv. 2022 Jan; 2021 Dec 21. PMID: 34930015.
• Anatomical Classification and Posttreatment Remodeling Characteristics to Guide Management and Follow-Up of Neonates and Infants With Coronary Artery Fistula: A Multicenter Study From the Coronary Artery Fistula Registry.Gowda ST, Latson L, Sivakumar K, Hiremath G, Crystal M, Law M, Shahanavaz S, Asnes J, Veeram Reddy S, Kobayashi D, Alwi M, Ichida F, Hirono K, Tahara M, Takeda A, Minami T, Kutty S, Nugent AW, Forbes T, Prieto LR, Qureshi AM. Circ Cardiovasc Interv. 2021 Dec; 2021 Dec 14. PMID: 34903033.
• 2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: executive summary.Silka MJ, Shah MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannakeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Von Bergen NH, Wackel PL. Cardiol Young. 2021 Nov; 2021 Jul 30. PMID: 34796795.
• 2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients: Developed in collaboration with and endorsed by the Heart Rhythm Society (HRS), the American College of Cardiology (ACC), the American Heart Association (AHA), and the Association for European Paediatric and Congenital Cardiology (AEPC) Endorsed by the Asia Pacific Heart Rhythm Society (APHRS), the Indian Heart Rhythm Society (IHRS), and the Latin American Heart Rhythm Society (LAHRS).Shah MJ, Silka MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Bergen NHV, Wackel PL. JACC Clin Electrophysiol. 2021 Nov; 2021 Jul 29. PMID: 34794667.
• 2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients.Shah MJ, Silka MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Bergen NHV, Wackel PL. Heart Rhythm. 2021 Nov; 2021 Jul 29. PMID: 34363988.
• 2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients: Executive Summary.Silka MJ, Shah MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Von Bergen NH, Wackel PL. Heart Rhythm. 2021 Nov; 2021 Jul 29. PMID: 34363987.
• 2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients.Shah MJ, Silka MJ, Silva JNA, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Von Bergen NH, Wackel PL. Cardiol Young. 2021 Nov; 2021 Aug 2. PMID: 34338183.
• 2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: Executive summary.Silka MJ, Shah MJ, Avari Silva JN, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Von Bergen NH, Wackel PL. Indian Pacing Electrophysiol J. 2021 Nov-Dec; 2021 Jul 29. PMID: 34333142.
• 2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients.Shah MJ, Silka MJ, Avari Silva JN, Balaji S, Beach CM, Benjamin MN, Berul CI, Cannon B, Cecchin F, Cohen MI, Dalal AS, Dechert BE, Foster A, Gebauer R, Gonzalez Corcia MC, Kannankeril PJ, Karpawich PP, Kim JJ, Krishna MR, Kubuš P, LaPage MJ, Mah DY, Malloy-Walton L, Miyazaki A, Motonaga KS, Niu MC, Olen M, Paul T, Rosenthal E, Saarel EV, Silvetti MS, Stephenson EA, Tan RB, Triedman J, Von Bergen NH, Wackel PL. Indian Pacing Electrophysiol J. 2021 Nov-Dec; 2021 Jul 29. PMID: 34333141.
• Challenges of Diagnosing Viral Myocarditis in Adolescents in the Era of COVID-19 and MIS-C.Shah HP, Frye R, Chang S, Faherty E, Steele J, Karnik R. Case Rep Pediatr. 2021; 2021 Oct 4. PMID: 34616578.
• A 13-Year-Old With Fever and Chest Pain.Soma G, Simmons MA, Canarie MF, Karnik R, Steele J, Tiyyagura G, Asnes J. Pediatrics. 2021 Sep; 2021 Aug 3. PMID: 34344802.
• Utility of routine screening fetal echocardiogram in pregnancies conceived by in vitro fertilization.Bjorkman KR, Bjorkman SH, Ferdman DJ, Sfakianaki AK, Copel JA, Bahtiyar MO. Fertil Steril. 2021 Sep; 2021 Jun 29. PMID: 34210397.
• Symptomatic Acute Myocarditis in 7 Adolescents After Pfizer-BioNTech COVID-19 Vaccination.Marshall M, Ferguson ID, Lewis P, Jaggi P, Gagliardo C, Collins JS, Shaughnessy R, Caron R, Fuss C, Corbin KJE, Emuren L, Faherty E, Hall EK, Di Pentima C, Oster ME, Paintsil E, Siddiqui S, Timchak DM, Guzman-Cottrill JA. Pediatrics. 2021 Sep; 2021 Jun 4. PMID: 34088762.
• Comparison of the investigational device exemption and post-approval trials of the Melody transcatheter pulmonary valve.Kreutzer J, Armstrong AK, Rome JJ, Zellers TM, Balzer DT, Zampi JD, Cabalka AK, Javois AJ, Turner DR, Gray RG, Moore JW, Weng S, Jones TK, Khan DM, Vincent JA, Hellenbrand WE, Cheatham JP, Bergersen LJ, McElhinney DB. Catheter Cardiovasc Interv. 2021 Aug 1; 2021 Mar 29. PMID: 33780150.
• Molecular Genetics and Complex Inheritance of Congenital Heart Disease.Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Genes (Basel). 2021 Jun 30; 2021 Jun 30. PMID: 34209044.
• Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.Li M, Zeng X, Jin C, Jin SC, Dong W, Brueckner M, Lifton R, Lu Q, Zhao H. Quant Biol. 2021 Jun. PMID: 35414959.
• Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Circ Res. 2021 Apr 16; 2021 Feb 9. PMID: 33557580.
• Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. JAMA Cardiol. 2021 Apr 1. PMID: 33084842.
• Impact of the new heart allocation policy on patients with restrictive, hypertrophic, or congenital cardiomyopathies.Chouairi F, Mullan CW, Sen S, Mori M, Fuery M, Elder RW, Lesse J, Norton K, Clark KA, Miller PE, Mulligan D, Formica R, Rogers JG, Jacoby D, Maulion C, Anwer M, Geirsson A, Desai NR, Ahmad T. PLoS One. 2021; 2021 Mar 2. PMID: 33651802.
• A window into portal hemodynamics in adult fontan patients?Simmons MA, Revzin M, To U, Liapakis A, Fahey J, Elder RW. Int J Cardiol. 2021 Jan 15; 2020 Sep 24. PMID: 32979426.
• Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW. Pediatr Dermatol. 2021 Jan; 2020 Dec 4. PMID: 33275305.
• Neonatal Cardiac Emergencies: A Multidisciplinary Simulation Curriculum for Neonatology and Pediatric Cardiology Fellows.Simmons MA, Otero-Luna A, Redmond B, Fahey J, Beach C, Bruno C, Johnston L. MedEdPORTAL. 2020 Dec 16; 2020 Dec 16. PMID: 33365389.
• Transcatheter Pulmonary Valve Replacement With the Sapien Prosthesis.Shahanavaz S, Zahn EM, Levi DS, Aboulhousn JA, Hascoet S, Qureshi AM, Porras D, Morgan GJ, Bauser Heaton H, Martin MH, Keeshan B, Asnes JD, Kenny D, Ringewald JM, Zablah JE, Ivy M, Morray BH, Torres AJ, Berman DP, Gillespie MJ, Chaszczewski K, Zampi JD, Walsh KP, Julien P, Goldstein BH, Sathanandam SK, Karsenty C, Balzer DT, McElhinney DB. J Am Coll Cardiol. 2020 Dec 15. PMID: 33303074.
• Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations.Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH. J Am Heart Assoc. 2020 Oct 20; 2020 Oct 15. PMID: 33054561.