{"id":55,"date":"2021-08-30T17:46:25","date_gmt":"2021-08-30T17:46:25","guid":{"rendered":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/?page_id=55"},"modified":"2025-10-25T15:39:14","modified_gmt":"2025-10-25T15:39:14","slug":"publications","status":"publish","type":"page","link":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"

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Dr. Kontorovich’s NCBI Bibliography:\u00a0https:\/\/www.ncbi.nlm.nih.gov\/myncbi\/amy.kontorovich.1\/bibliography\/public\/<\/a><\/p>\n

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2025<\/h3>\n

Gensemer C, Petrucci T, Beck T, Daylor V, Griggs M, Griggs C, Weintraub A, Byerly K, Guo L, Morningstar J, Kornblau I, Biggs R, Moore K, Koren N, Hastings C, Oberlies E, Zientara ER, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger J, Bistran E, Beeson G, Kerns J, Osterhaus M, Fleck E, Schnaudigel J, Butler S, Severance S, Kendall W, Delaney JR, Judge DP, Chen P, Yao H, Guz J, Awgulewitsch A, Kautz SA, Mukherjee R, Price R, Henderson F Sr, Shapiro S, Francomano CA, Kovacic JC, Lavallee M, Kontorovich AR<\/strong>, Berrandou TE, Slaugenhaupt SA, Milan D, Maitland A, Patel S, Bouatia-Naji N, Norris RA. KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.<\/a> iScience<\/em>. 2025 Aug 12;28(9):113343. doi: 10.1016\/j.isci.2025.113343.<\/p>\n

Gertz MA, Aras MA, Bart N, Brannagan TH III, Griffin JM, Kontorovich AR<\/strong>, Rosen AM. Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.<\/a> Ann Med<\/em>. 2025 Dec;57(1):2536755.<\/p>\n

Kontorovich AR<\/strong>, Benson CB, McClellan A, Belbin GM, Kenny EE, Abul-Husn NS. Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.<\/a> Genet Med<\/em>. 2025 Mar;27(3):101346. doi: 10.1016\/j.gim.2024.101346.<\/p>\n

Writing Committee; Drazner MH, Bozkurt B, Cooper LT, Aggarwal NR, Basso C, Bhave NM, Caforio ALP, Ferreira VM, Heidecker B,\u00a0<\/span>Kontorovich AR<\/b>, Mart\u00edn P, Roth GA, Van Eyk JE. 2024 ACC Expert Consensus Decision Pathway on Strategies and Criteria for the Diagnosis and Management of Myocarditis: A Report of the American College of Cardiology Solution Set Oversight Committee.<\/a> J Am Coll Cardiol<\/em>. 2025 Feb 4;85(4):391-431.<\/span><\/p>\n

Liou L, Garc\u00eda-Gonz\u00e1lez J, Wu HM, Wang Z, Hoggart CJ, Kontorovich AR<\/strong>, Kovacic JC, O’Reilly PF. Clinical and Genomic Prediction of Coronary Artery Disease Subtypes.<\/a> Arterioscler Thromb Vasc Biol<\/em>. 2025 Jan;45(1):90-103.<\/p>\n

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2024<\/h3>\n

\u00a0Liou L, Maurer MS, Kontorovich AR<\/strong>. Improved Access to Genetics Care is Needed to Address Health Inequities in ATTRv Amyloidosis.<\/a> Circulation<\/em>. 2024 Oct;150(14):1072-1074.<\/p>\n

Gensemer C, Beck T, Guo L, Petrucci T, Morningstar J, Kornblau I, Byerly K, Biggs R, Weintraub A, Moore K, Koren N, Daylor V, Hastings C, Oberlies E, Zientara ER, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger J, Bistran E, Beeson G, Kerns J, Griggs M, Griggs C, Osterhaus M, Fleck E, Schnaudigel J, Butler S, Severance S, Kendall W, Delaney JR, Judge DP, Chen P, Yao H, Guz J, Awgulewitsch A, Kautz SA, Mukherjee R, Price R, Henderson F Sr, Shapiro S, Francomano CA, Kovacic JC, Lavallee M, Patel S, Berrandou TE, Slaugenhaupt SA, Milan D, Kontorovich AR<\/strong>, Bouatia-Naji N, Norris RA. Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.<\/a> Res Sq<\/em> [Preprint]. 2024 Jun 10:rs.3.rs-4547888.<\/p>\n

Ammirati E, Kontorovich AR<\/strong>, Cooper LT Jr. Illuminating a Hidden Risk: The Genetic Contribution to Acute Myocarditis.<\/a> JACC Heart Fail<\/em>. 2024 Jun;12(6):1112-1114.<\/p>\n

Saxton S, Kontorovich AR<\/strong>, Wang D, Zhou B, Um SY, Lin Y, Rojas L, Tyll E, Dickinson G, Stram M, Harris CK, Gelb BD, Sampson BA, Graham JK, Tang Y. Cardiac genetic test yields and genotype-phenotype correlations from large cohort investigated by medical examiner’s office.<\/a> Cardiovasc Pathol<\/em>. 2024 Sep-Oct:72:107654. doi: 10.1016\/j.carpath.2024.107654.<\/p>\n

<\/span>Castro R, Veledar E, Shaw L, Mancini D, Moss N, Fettig V,\u00a0<\/span>Kontorovich AR<\/b>, Lala A. Genetic Referral Patterns and Outcomes Among Patients With Nonischemic Cardiomyopathy Requiring Advanced Therapies.<\/a> J Card Fail<\/em>. 2024 Jun;30(6):857-859. doi: 10.1016\/j.cardfail.2024.03.005.<\/span><\/p>\n

Kontorovich AR. <\/b>Precision Phenotyping in Arrhythmogenic Cardiomyopathy: What’s in a Name?<\/a> J Am Coll Cardiol<\/em>. 2024 Feb 27;83(8):808-810.<\/span><\/p>\n

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2023<\/h3>\n

Lui, MM, Shadrina, M, Gelb BD, Kontorovich AR<\/strong>. Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk\u00a0<\/span>COL3A1<\/i>\u00a0<\/span>Genotypes<\/a>.\u00a0Circ Genom Precis Med<\/em>. 2023 Apr;16(2):e003864. doi: 10.1161\/CIRCGEN.122.003864<\/span><\/p>\n

Kontorovich AR<\/strong>.\u00a0<\/span><\/span>Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.\u00a0<\/span><\/a>JACC Heart Fail<\/span><\/em>.\u00a0<\/span>2023 Feb;<\/span>11<\/span>(2)<\/span>:133-142<\/span>.\u00a0<\/span>doi: 10.1016\/j.jchf.2022.11.025.\u00a0<\/span><\/span><\/p>\n

Kontorovich AR<\/strong>, Abul-Husn NS.\u00a0<\/span><\/span>TTR Val142Ile: Bystander Genetic Finding or Diagnosis?.\u00a0<\/span><\/a>Pediatr Cardiol<\/span><\/em>.\u00a0<\/span>2023 Feb;<\/span>44<\/span>(2)<\/span>:499-500<\/span>.\u00a0<\/span>doi: 10.1007\/s00246-022-03085-7.<\/span><\/p>\n

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2022<\/h3>\n

Fern\u00e1ndez-Casta\u00f1eda A, Lu P, Geraghty AC, Song E, Lee MH, Wood J, O’Dea MR, Dutton S, Shamardani K, Nwangwu K, Mancusi R, Yal\u00e7\u0131n B, Taylor KR, Acosta-Alvarez L, Malacon K, Keough MB, Ni L, Woo PJ, Contreras-Esquivel D, Toland AMS, Gehlhausen JR, Klein J, Takahashi T, Silva J, Israelow B, Lucas C, Mao T, Pe\u00f1a-Hern\u00e1ndez MA, Tabachnikova A, Homer RJ, Tabacof L, Tosto-Mancuso J, Breyman E, Kontorovich A<\/strong>, McCarthy D, Quezado M, Vogel H, Hefti MM, Perl DP, Liddelow S, Folkerth R, Putrino D, Nath A, Iwasaki A, Monje M.\u00a0<\/span>Mild respiratory COVID can cause multi-lineage neural cell and myelin dysregulation.\u00a0<\/a>Cell<\/span><\/em>.\u00a0<\/span>2022 Jul 7;<\/span>185<\/span>(14)<\/span>:2452-2468.e16<\/span>.\u00a0<\/span>doi: 10.1016\/j.cell.2022.06.008.\u00a0<\/span><\/p>\n

Rashed ER, Ruiz Maya T, Black J, Fettig V, Kadian-Dodov D, Olin JW, Mehta L, Gelb BD, Kontorovich AR<\/strong>.\u00a0<\/span><\/span>Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.\u00a0<\/span><\/a>Vasc Med<\/span><\/em>.\u00a0<\/span>2022 Jun;<\/span>27<\/span>(3)<\/span>:283-289<\/span>.\u00a0<\/span>doi: 10.1177\/1358863X211067566.<\/span><\/p>\n

Tabacof L, Tosto-Mancuso J, Wood J, Cortes M, Kontorovich A<\/strong>, McCarthy D, Rizk D, Rozanski G, Breyman E, Nasr L, Kellner C, Herrera JE, Putrino D.\u00a0<\/span><\/span>Post-acute COVID-19 Syndrome Negatively Impacts Physical Function, Cognitive Function, Health-Related Quality of Life, and Participation.\u00a0<\/span><\/a>Am J Phys Med Rehabil<\/span><\/em>.\u00a0<\/span>2022 Jan 1;<\/span>101<\/span>(1)<\/span>:48-52<\/span>.\u00a0<\/span>doi: 10.1097\/PHM.0000000000001910.\u00a0<\/span><\/span><\/p>\n

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2021<\/h3>\n

Ruiz Maya T, Fettig V, Mehta L, Gelb BD, Kontorovich AR<\/strong>. Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy<\/a>. Am J Med Genet A<\/em>. Published online July 2021. doi:10.1002\/ajmg.a.62446<\/p>\n

Kontorovich AR<\/strong>, Tang Y, Patel N, Georgievskaya Z, Shadrina M, Williams N, Moscati A, Peter I, Itan Y, Sampson B, Gelb BD. Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis<\/a>. Circ Genomic Precis Med<\/em>. Published online July 2021. doi:10.1161\/CIRCGEN.121.003426<\/p>\n

Wenger BM, Patel N, Lui M, Moscati A, Do R, Stewart DR, Tartaglia M, Mui\u00f1o-Mosquera L, De Backer J, Kontorovich AR<\/strong>,\u00a0Gelb, Bruce D. A genotype-first approach to exploring Mendelian cardiovascular traits with clear\u00a0 external manifestations<\/a>. <\/span>Genet Med<\/em>. 2021;23(1):94-102. doi:10.1038\/s41436-020-00973-2<\/span><\/p>\n

Kontorovich AR<\/strong>, Patel N, Moscati A, Richter F, Peter I, Purevjav E, Selejan SR, Kindermann I, Towbin JA, Bohm M, Klingel K, Gelb BD. Myopathic Cardiac Genotypes Increase Risk for Myocarditis<\/a>. JACC Basic to Transl Sci<\/em>. 2021;6(7):584-592. doi:10.1016\/j.jacbts.2021.06.001<\/p>\n

Kontorovich AR<\/strong>, Abul-Husn NS. Retinol Binding Protein 4 as a Screening Biomarker for Hereditary TTR Amyloidosis in\u00a0African American Adults With TTR V142I<\/a>. J Card Fail<\/em>. Published online May 2021. doi:10.1016\/j.cardfail.2021.05.009<\/p>\n

Soper ER, Suckiel SA, Braganza GT, Kontorovich AR<\/strong>, Kenny EE, Abul-Husn NS. Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin\u00a0Amyloidosis<\/a>. J Pers Med<\/em>. 2021;11(1). doi:10.3390\/jpm11010049<\/p>\n

Miller CL, Kontorovich AR<\/strong>, Hao K, Ma L, Iyegbe C, Bj\u00f6rkegren J, Kovacic JC. Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2\/5<\/a>. J Am Coll Cardiol<\/em>. 2021;77(20):2531-2550. doi:10.1016\/j.jacc.2021.04.001<\/p>\n

Wood J, Tabacof L, Tosto-Mancuso J, McCarthy D, Kontorovich A<\/strong>, Putrino D.\u00a0<\/span><\/span>Levels of end-tial carbon dioxide are low despite normal respiratory rate in individuals with long COVID.\u00a0<\/span><\/a>J Breath Res<\/span>.\u00a0<\/span>2021 Dec 8;<\/span>16<\/span>(1)<\/span>.\u00a0<\/span>doi: 10.1088\/1752-7163\/ac3c18.\u00a0<\/span><\/span><\/p>\n

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2020<\/h3>\n

Malhotra A, Pace A, Ruiz Maya T, Colman R, Gelb BD, Mehta L, Kontorovich AR<\/strong>. Headaches in hypermobility syndromes: A pain in the neck?<\/a> Am J Med Genet A<\/em>. 2020;182(12):2902-2908. doi:10.1002\/ajmg.a.61873<\/p>\n

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Other Publications<\/h3>\n

Belkaya S, Kontorovich AR<\/strong>, Byun M, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang S, Bonnet D Gelb BD, Casanova J. Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis<\/a>. J Am Coll Cardiol<\/em>. 2017;69(13):1653-1665. doi:10.1016\/j.jacc.2017.01.043<\/p>\n

Pollack A, Kontorovich AR<\/strong>, Fuster V, Dec GW. Viral myocarditis–diagnosis, treatment options, and current controversies<\/a>. <\/span>Nat Rev Cardiol<\/em>. 2015;12(11):670-680. doi:10.1038\/nrcardio.2015.108<\/span><\/p>\n

Pawale A, Kontorovich AR<\/strong>, Kaushik R,\u00a0Sengupta P, Sanz J,\u00a0<\/span>Orozco-Sevilla V,\u00a0<\/span>McGuire A,\u00a0<\/span>Thaker H,\u00a0<\/span>Stelzer P<\/span>. Valve-sparing aortic root replacement for rapidly growing multiple sinus of Valsalva\u00a0 pseudoaneurysms in a case of Beh\u00e7et\u2019s-like aortitis. <\/a><\/span>Ann Thorac Surg<\/em>. 2013;96(1):e23. doi:10.1016\/j.athoracsur.2013.03.039<\/span><\/p>\n

Kelly DJ, Rosen AB<\/strong>, Schuldt AJ, Kochupura PV, Doronin SV, Potapova IA, Azeloglu EU, Badylak SF, Brink PR, Cohen IS, Gaudette GR.\u00a0<\/span><\/span>Increased myocyte content and mechanical function within a tissue-engineered myocardial patch following implantation.\u00a0<\/span><\/a>Tissue Eng Part A<\/span>.\u00a0<\/span>2009 Aug;<\/span>15<\/span>(8)<\/span>:2189-201<\/span>.\u00a0<\/span>doi: 10.1089\/ten.tea.2008.0430.\u00a0<\/span><\/span>PubMed PMID: 19231971<\/span>; PubMed Central PMCID: PMC2743237<\/span>.<\/span><\/span><\/p>\n

Potapova IA, Doronin SV, Kelly DJ, Rosen AB<\/strong>, Schuldt AJ, Lu Z, Kochupura PV, Robinson RB, Rosen MR, Brink PR, Gaudette GR, Cohen IS.\u00a0<\/span>Enhanced recovery of mechanical function in the canine heart by seeding an extracellular matrix patch with mesenchymal stem cells committed to a cardiac lineage.\u00a0<\/a>Am J Physiol Heart Circ Physiol<\/span>.\u00a02008 Dec;<\/span>295<\/span>(6)<\/span>:H2257-63<\/span>.\u00a0doi: 10.1152\/ajpheart.00219.2008.\u00a0<\/span>Epub 2008 Oct 3.\u00a0<\/span>PubMed PMID: 18835924<\/span>; PubMed Central PMCID: PMC2614533<\/span>.<\/span><\/span><\/p>\n

Rosen MR, Brink PR, Cohen IS, Danilo P Jr, Robinson RB, Rosen AB<\/strong>, Szabolcs MJ.\u00a0<\/span>Regenerative therapies in electrophysiology and pacing.\u00a0<\/a>J Interv Card Electrophysiol<\/span>.\u00a02008 Aug;<\/span>22<\/span>(2)<\/span>:87-98<\/span>.\u00a0doi: 10.1007\/s10840-008-9208-3.\u00a0<\/span>Epub 2008 Mar 25.\u00a0<\/span>Review.\u00a0<\/span>PubMed PMID: 18363088<\/span>; PubMed Central PMCID: PMC4354935<\/span>.<\/span><\/span><\/p>\n

Potapova IA, Doronin SV, Kelly DJ, Rosen AB<\/strong>, Schuldt AJ, Lu Z, Guo Y, Kochupura PV, Robinson RB, Rosen MR, Brink PR, Gaudette GR, Cohen IS.\u00a0<\/span>Replacing damaged myocardium.\u00a0<\/a>J Electrocardiol<\/span>.\u00a02007 Nov-Dec;<\/span>40<\/span>(6 Suppl)<\/span>:S199-201<\/span>.\u00a0doi: 10.1016\/j.jelectrocard.2007.05.025.\u00a0<\/span>PubMed PMID: 17993323<\/span>; PubMed Central PMCID: PMC2702755<\/span>.<\/span><\/span><\/p>\n

Plotnikov AN, Shlapakova I, Szabolcs MJ, Danilo P Jr, Lorell BH, Potapova IA, Lu Z, Rosen AB<\/strong>, Mathias RT, Brink PR, Robinson RB, Cohen IS, Rosen MR.\u00a0<\/span>Xenografted adult human mesenchymal stem cells provide a platform for sustained biological pacemaker function in canine heart.\u00a0<\/a>Circulation<\/span>.\u00a02007 Aug 14;<\/span>116<\/span>(7)<\/span>:706-13<\/span>.\u00a0doi: 10.1161\/CIRCULATIONAHA.107.703231.\u00a0<\/span>Epub 2007 Jul 23.\u00a0<\/span>PubMed PMID: 17646577<\/span>.<\/span><\/span><\/p>\n

Rosen AB<\/strong>, Kelly DJ, Schuldt AJ, Lu J, Potapova IA, Doronin SV, Robichaud KJ, Robinson RB, Rosen MR, Brink PR, Gaudette GR, Cohen IS.\u00a0<\/span>Finding fluorescent needles in the cardiac haystack: tracking human mesenchymal stem cells labeled with quantum dots for quantitative in vivo three-dimensional fluorescence analysis.\u00a0<\/a>Stem Cells<\/span>.\u00a02007 Aug;<\/span>25<\/span>(8)<\/span>:2128-38<\/span>.\u00a0doi: 10.1634\/stemcells.2006-0722.\u00a0<\/span>Epub 2007 May 10.\u00a0<\/span>PubMed PMID: 17495112<\/span>.<\/span><\/span><\/p>\n

Cohen IS, Rosen AB<\/strong>, Gaudette GR.\u00a0<\/span>A Caveat Emptor for myocardial regeneration: mechanical without electrical recovery will not suffice.\u00a0<\/a>J Mol Cell Cardiol<\/span>.\u00a02007 Feb;<\/span>42<\/span>(2)<\/span>:285-8<\/span>.\u00a0doi: 10.1016\/j.yjmcc.2006.11.001.\u00a0<\/span>Epub 2006 Dec 28.\u00a0<\/span>PubMed PMID: 17196613<\/span>; PubMed Central PMCID: PMC2709211<\/span>.<\/span><\/span><\/p>\n

Helmke BP, Rosen AB<\/strong>, Davies PF.\u00a0<\/span>Mapping mechanical strain of an endogenous cytoskeletal network in living endothelial cells.\u00a0<\/a>Biophys J<\/span>.\u00a02003 Apr;<\/span>84<\/span>(4)<\/span>:2691-9<\/span>.\u00a0doi: 10.1016\/S0006-3495(03)75074-7.\u00a0<\/span>PubMed PMID: 12668477<\/span>; PubMed Central PMCID: PMC1302835<\/span>.<\/span><\/span><\/p>\n

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Dr. Kontorovich’s NCBI Bibliography:\u00a0https:\/\/www.ncbi.nlm.nih.gov\/myncbi\/amy.kontorovich.1\/bibliography\/public\/2025 Gensemer C, Petrucci T, Beck T, Daylor V, Griggs M, Griggs C, Weintraub A, Byerly K, Guo L, Morningstar J, Kornblau I, Biggs R, Moore K, Koren N, Hastings C, Oberlies E, Zientara ER, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger […]<\/p>\n","protected":false},"author":475,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-55","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/pages\/55","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/users\/475"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/comments?post=55"}],"version-history":[{"count":28,"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/pages\/55\/revisions"}],"predecessor-version":[{"id":391,"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/pages\/55\/revisions\/391"}],"wp:attachment":[{"href":"https:\/\/labs.icahn.mssm.edu\/kontorovichlab\/wp-json\/wp\/v2\/media?parent=55"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}