{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:00:07Z","timestamp":1790114407464,"version":"4.0.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T00:00:00Z","timestamp":1763337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Humanidades, Ciencias y Tecnolog\u00edas","doi-asserted-by":"publisher","award":["2022-000002-01NACF-00427"],"award-info":[{"award-number":["2022-000002-01NACF-00427"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Cardiol"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1007\/s00246-025-04081-3","type":"journal-article","created":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T08:34:12Z","timestamp":1763368452000},"page":"2993-3004","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case\u2013Control Study"],"prefix":"10.1007","volume":"47","author":[{"given":"Felix-Julian","family":"Campos-Garcia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Addy-Manuela","family":"Castillo-Espinola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina-Elizabeth","family":"Medina-Escobedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"Zenteno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio-Cesar","family":"Lara-Riegos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanita-Adriana","family":"Chuc-Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana-Isabel","family":"Velazquez-Ibarra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina-Del-Carmen","family":"Cauich-Pool","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eddie-Alberto","family":"Favela-Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo-Ysidro","family":"Pech-Gomez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel-Angel","family":"Villasis-Keever","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,17]]},"reference":[{"key":"4081_CR1","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s11886-024-02022-9","volume":"26","author":"J Maddhesiya","year":"2024","unstructured":"Maddhesiya J, Mohapatra B (2024) Understanding the genetic and Non-genetic interconnections in the aetiology of isolated congenital heart disease: an updated review: part 1. Curr Cardiol Rep 26:147\u2013165","journal-title":"Curr Cardiol Rep"},{"key":"4081_CR2","doi-asserted-by":"publisher","first-page":"253","DOI":"10.3390\/cardiogenetics12030024","volume":"12","author":"F-J Campos-Garcia","year":"2022","unstructured":"Campos-Garcia F-J, Castillo-Espinola A-M, Medina-Escobedo C-E, Zenteno J, Lara-Riegos J-C, Rubio-Zapata H, Cruz-Robles D, Velazquez-Ibarra (2022) A-I. Screening method for 22q11 deletion syndrome involving the use of TaqMan qPCR for TBX1 in patients with Conotruncal congenital heart disease. Cardiogenetics 12:253\u2013260","journal-title":"Cardiogenetics"},{"key":"4081_CR3","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1007\/s00246-014-0884-8","volume":"35","author":"A Egbe","year":"2014","unstructured":"Egbe A, Uppu S, Stroustrup A, Lee S, Ho D, Srivastava S (2014) Incidences and sociodemographics of specific congenital heart diseases in the united States of america: an evaluation of hospital discharge diagnoses. Pediatr Cardiol 35:975\u2013982","journal-title":"Pediatr Cardiol"},{"key":"4081_CR4","doi-asserted-by":"crossref","unstructured":"Franklin RCG, B\u00e9land MJ, Colan SD, Walters HL, Aiello VD, Anderson RH, Bailliard F, Boris JR, Cohen MS, Gaynor JW, Guleserian KJ, Houyel L, Jacobs ML, Juraszek AL, Krogmann ON, Kurosawa H, Lopez L, Maruszewski BJ, St Louis JD, Seslar SP, Srivastava S, Stellin G, Tchervenkov CI, Weinberg PM, Jacobs JP (2017) Nomenclature for congenital and paediatric cardiac disease: the international paediatric and congenital cardiac code (IPCCC) and the eleventh iteration of the international classification of diseases (ICD-11). Cardiology in the young. Cambridge University Press, pp p1872\u20131938","DOI":"10.1017\/S1047951117002244"},{"key":"4081_CR5","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1007\/s00246-009-9616-x","volume":"31","author":"S Chakraborty","year":"2010","unstructured":"Chakraborty S, Combs MD, Yutzey KE (2010) Transcriptional regulation of heart valve progenitor cells. Pediatr Cardiol 31:414\u2013421","journal-title":"Pediatr Cardiol"},{"key":"4081_CR6","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1007\/s10237-020-01413-5","volume":"20","author":"HE Salman","year":"2021","unstructured":"Salman HE, Alser M, Shekhar A, Gould RA, Benslimane FM, Butcher JT, Yalcin HC (2021) Effect of left atrial ligation-driven altered inflow hemodynamics on embryonic heart development: clues for prenatal progression of hypoplastic left heart syndrome. Biomech Model Mechanobiol 20:733\u2013750","journal-title":"Biomech Model Mechanobiol"},{"key":"4081_CR7","doi-asserted-by":"crossref","unstructured":"Gabriel GC, Ganapathiraju M, Lo CW (2024) The role of cilia and the complex genetics of congenital heart disease. Annu Rev Genomics Hum Genet","DOI":"10.1146\/annurev-genom-121222-105345"},{"key":"4081_CR8","unstructured":"Zaidi S, Brueckner M Genetics and Genomics of Congenital Heart Disease. Circulation Research"},{"key":"4081_CR9","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1161\/CIRCGEN.119.002491","volume":"12","author":"D Frank","year":"2019","unstructured":"Frank D, Rangrez AY, Friedrich C, Dittmann S, Stallmeyer B, Yadav P, Bernt A, Schulze-Bahr E, Borlepawar A, Zimmermann WH, Peischard S, Seebohm G, Linke WA, Baba HA, Kr\u00fcger M, Unger A, Usinger P, Frey N, Schulze-Bahr E (2019) Cardiac \u03b1-actin (ACTC1) gene mutation causes atrial-septal defects associated with late-onset dilated cardiomyopathy. Circ Genom Precis Med 12:345\u2013356","journal-title":"Circ Genom Precis Med"},{"key":"4081_CR10","doi-asserted-by":"crossref","unstructured":"Wang G, Wang B, Yang P (2022) Epigenetics in congenital heart disease. J Am Heart Assoc ;11","DOI":"10.1161\/JAHA.121.025163"},{"key":"4081_CR11","unstructured":"Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, Boer E de, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Borras S,Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O\u2019Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J,McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N,Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A,Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D,Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S,Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N,Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth H V., FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 2020;586:757\u2013762"},{"key":"4081_CR12","unstructured":"Blue GM, Ip EKK, Troup M, Dale RC, Sholler GF, Harvey RP, Dunwoodie SL, Giannoulatou E, Winlaw DS Insights into the genetic architecture underlying complex, critical congenital heart disease. Am Heart J"},{"key":"4081_CR13","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1016\/j.ajhg.2025.01.024","volume":"112","author":"ME Kars","year":"2025","unstructured":"Kars ME, Stein D, Stenson PD, Cooper DN, Chung WK, Gruber PJ, Seidman CE, Shen Y, Tristani-Firouzi M, Gelb BD, Itan Y (2025) Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet 112:583\u2013598","journal-title":"Am J Hum Genet"},{"key":"4081_CR14","first-page":"405","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Sci 17:405\u2013424","journal-title":"Genet Sci"},{"key":"4081_CR15","doi-asserted-by":"publisher","first-page":"D638","DOI":"10.1093\/nar\/gkac1000","volume":"51","author":"D Szklarczyk","year":"2023","unstructured":"Szklarczyk D, Kirsch R, Koutrouli M, Nastou K, Mehryary F, Hachilif R, Gable AL, Fang T, Doncheva NT, Pyysalo S, Bork P, Jensen LJ, von Mering C (2023) The STRING database in 2023: protein\u2013protein association networks and functional enrichment analyses for any sequenced genome of interest. Nucleic Acids Res 51:D638\u2013D646","journal-title":"Nucleic Acids Res"},{"key":"4081_CR16","doi-asserted-by":"publisher","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","volume":"52","author":"MA Gargano","year":"2024","unstructured":"Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bak\u0161tein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, \u010cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, Dieuleveult M, Souza V, de Vries BBA, Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanu\u0161ov\u00e1 K, He Y, Hegde H, Helbig I, Holasov\u00e1 K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulov\u00e1 M, Millett CE, Mitchell PB, Moslerov\u00e1 V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, \u010cajbikov\u00e1 NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Nanclares GP, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Castano JAT, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vl\u010dkov\u00e1 M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Y\u00fcksel Z, Zandi PP, Zankl A, Zarante I, Zvolsk\u00fd M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, K\u00f6hler S, Haendel MA, Robinson PN (2024) Nucleic Acids Res 52:D1333\u2013D1346 The Human Phenotype Ontology in 2024: phenotypes around the world","journal-title":"Nucleic Acids Res"},{"key":"4081_CR17","unstructured":"Meng X, Song M, Zhang K, Lu W, Li Y, Zhang C, Zhang Y Congenital heart disease: types, pathophysiology, diagnosis, and treatment options. MedComm"},{"key":"4081_CR18","unstructured":"Nakajima Y, Yamagishi T, Hokari S, Nakamura H INVITED REVIEW Mechanisms Involved in Valvuloseptal Endocardial Cushion Formation in Early Cardiogenesis: Roles of Transforming Growth Factor (TGF)-and Bone Morphogenetic Protein (BMP). Anat Rec"},{"key":"4081_CR19","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1007\/s00246-014-1091-3","volume":"36","author":"MA Alc\u00e1ntara-Ortigoza","year":"2015","unstructured":"Alc\u00e1ntara-Ortigoza MA, Rubens-Figueroa J, De, Reyna-Fabian ME, Estand\u00eda-Ortega B, Gonz\u00e1lez-del Angel A, Molina-\u00c1lvarez B, Vel\u00e1zquez-Arag\u00f3n JA, Villag\u00f3mez-Mart\u00ednez S, Pereira-L\u00f3pez GI, Cruz-Mart\u00ednez V, \u00c1lvarez-G\u00f3mez RM, Garc\u00eda-D\u00edaz L (2015) Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of down syndrome patients with endocardial cushion and septal heart defects. Pediatr Cardiol 36:802\u2013808","journal-title":"Pediatr Cardiol"},{"key":"4081_CR20","doi-asserted-by":"crossref","unstructured":"Jensen B, Andelfinger GU, Postma AV (2024) Molecular pathways and animal models of ebstein\u2019s anomaly. p915\u2013928","DOI":"10.1007\/978-3-031-44087-8_58"},{"key":"4081_CR21","doi-asserted-by":"crossref","unstructured":"Sleiman A-K, Sadder L, Nemer G (2024) Human genetics of tricuspid Atresia and univentricular heart. p875\u2013884","DOI":"10.1007\/978-3-031-44087-8_54"},{"key":"4081_CR22","doi-asserted-by":"crossref","unstructured":"Maran S, Ee R, Faten SA, Bing CS, Khaw KY, Lim SHE, Lai KS, Ibrahim WPW, Zain MRM, Chan KG, Gan SH, Tan HL (2020) Mutations in the tail domain of MYH3 contributes to atrial septal defect. PLoS ONE ;15","DOI":"10.1371\/journal.pone.0230982"},{"key":"4081_CR23","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1007\/s00439-024-02703-z","volume":"143","author":"DA Baird","year":"2024","unstructured":"Baird DA, Mubeen H, Doganli C, Miltenburg JB, Thomsen OK, Ali Z, Naveed T, Rehman A, ur, Baig SM, Christensen ST, Farooq M, Larsen LA (2024) Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients. Hum Genet 143:1323\u20131339","journal-title":"Hum Genet"},{"key":"4081_CR24","doi-asserted-by":"publisher","first-page":"3784","DOI":"10.1002\/ajmg.a.62447","volume":"185","author":"CM Kolvenbach","year":"2021","unstructured":"Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, M\u00e4rzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F (2021) With renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A 185:3784\u20133792Exome survey of individuals affected by <\u2009scp\u2009>\u2009VATER \/ \u2009VACTERL","journal-title":"Am J Med Genet A"},{"key":"4081_CR25","unstructured":"Peeters S, Kinderen P, De, Meester JAN, Verstraeten A, Loeys BL The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human Mutation"},{"key":"4081_CR26","doi-asserted-by":"crossref","unstructured":"Nataatmadja M, West M, West J, Summers K, Walker P, Nagata M, Watanabe T (2003) Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in Marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm. Circulation ;108","DOI":"10.1161\/01.cir.0000087660.82721.15"},{"key":"4081_CR27","doi-asserted-by":"crossref","unstructured":"Doddahonnaiah D, Lenehan PJ, Hughes TK, Zemmour D, Garcia-Rivera E, Venkatakrishnan AJ, Chilaka R, Khare A, Kasaraneni A, Garg A, Anand A, Barve R, Thiagarajan V, Soundararajan V (2021) A literature-derived knowledge graph augments the interpretation of single cell RNA-seq datasets. Genes (Basel) ;12","DOI":"10.1101\/2021.04.01.438124"},{"key":"4081_CR28","doi-asserted-by":"publisher","first-page":"26","DOI":"10.3390\/jcdd8030026","volume":"8","author":"A Bhattacharya","year":"2021","unstructured":"Bhattacharya A, Al-Sammarraie N, Gebere MG, Johnson J, Eberth JF, Azhar M (2021) Myocardial TGF\u03b22 is required for atrioventricular cushion remodeling and myocardial development. J Cardiovasc Dev Dis 8:26","journal-title":"J Cardiovasc Dev Dis"},{"key":"4081_CR29","doi-asserted-by":"crossref","unstructured":"Rodgers J, Richmond CM, McGaughran J, Delineating (2022) the CCDC22 -related\u2009<\u2009scp\u2009>\u2009Ritscher\u2013Schinzel syndrome phenotype in the original family. Am J Med Genet A ;188:3324\u20133330","DOI":"10.1002\/ajmg.a.62963"},{"key":"4081_CR30","doi-asserted-by":"crossref","unstructured":"Behiry EG, Al-Azzouny MA, Sabry D, Behairy OG, Salem NE (2019) Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. Mol Genet Genomic Med ;7","DOI":"10.1002\/mgg3.612"},{"key":"4081_CR31","doi-asserted-by":"publisher","first-page":"14035","DOI":"10.1073\/pnas.1210730109","volume":"109","author":"K Lage","year":"2012","unstructured":"Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segr\u00e8 AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA (2012) Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A 109:14035\u201314040","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4081_CR32","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1111\/j.1399-0004.2010.01422.x","volume":"78","author":"B Stallmeyer","year":"2010","unstructured":"Stallmeyer B, Fenge H, Nowak-G\u00f6ttl U, Schulze-Bahr E (2010) Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin Genet 78:533\u2013540","journal-title":"Clin Genet"},{"key":"4081_CR33","doi-asserted-by":"crossref","unstructured":"Moreau JLM, Kesteven S, Martin EMMA, Lau KS, Yam MX, O\u2019reilly VC, Monte-Nieto G, Del, Baldini A, Feneley MP, Moon AM, Harvey RP, Sparrow DB, Chapman G, Dunwoodie SL (2019) Gene-environment interaction impacts on heart development and embryo survival. Dev (Cambridge) ;146","DOI":"10.1242\/dev.172957"},{"key":"4081_CR34","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1002\/ajmg.a.61091","volume":"179","author":"CM Carlston","year":"2019","unstructured":"Carlston CM, Bleyl SB, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, Bale JF, Botto LD (2019) Expanding the genetic and clinical spectrum of the NONO\u2010associated X\u2010linked intellectual disability syndrome. Am J Med Genet A 179:792\u2013796","journal-title":"Am J Med Genet A"}],"container-title":["Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-025-04081-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00246-025-04081-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-025-04081-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T21:02:50Z","timestamp":1790110970000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00246-025-04081-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,17]]},"references-count":34,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["4081"],"URL":"https:\/\/doi.org\/10.1007\/s00246-025-04081-3","relation":{},"ISSN":["0172-0643","1432-1971"],"issn-type":[{"value":"0172-0643","type":"print"},{"value":"1432-1971","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,17]]},"assertion":[{"value":"28 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing Interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This research was reviewed and approved by the Research and Ethics committee of Mexican Institute of Social Security, Approval Number R-2022-3203-012.","order":2,"name":"Ethics","label":"Ethical Approved","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All patients signed informed consent for genetic testing and the publication of their data.","order":3,"name":"Ethics","label":"Informed Consent","group":{"name":"EthicsHeading","label":"Declarations"}}]}}