{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T01:24:52Z","timestamp":1791336292094,"version":"4.3.1"},"reference-count":106,"publisher":"European Respiratory Society (ERS)","issue":"2","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"FEDER","doi-asserted-by":"crossref","award":["Annual grant"],"award-info":[{"award-number":["Annual grant"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Foundation Against PAH"},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FISPI21\/01593"],"award-info":[{"award-number":["FISPI21\/01593"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FISPI21\/01690"],"award-info":[{"award-number":["FISPI21\/01690"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2022,10,7]]},"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene,<jats:italic>BMPR2<\/jats:italic>(bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits\/risks of genetic testing for PAH patients and\/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered.<\/jats:p>","DOI":"10.1183\/13993003.01471-2022","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T14:00:17Z","timestamp":1666879217000},"page":"2201471","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":60,"title":["Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH"],"prefix":"10.1183","volume":"61","author":[{"given":"Christina A.","family":"Eichstaedt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Belge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1315-8873","authenticated-orcid":false,"given":"Stefan","family":"Gr\u00e4f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehard","family":"Gr\u00fcnig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9358-6922","authenticated-orcid":false,"given":"David","family":"Montani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8293-6261","authenticated-orcid":false,"given":"Rozenn","family":"Quarck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jair A.","family":"Tenorio-Castano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2571-7932","authenticated-orcid":false,"given":"Florent","family":"Soubrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard C.","family":"Trembath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas W.","family":"Morrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2022,10,27]]},"reference":[{"key":"2024102103081138000_61.2.2201471.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra040291"},{"key":"2024102103081138000_61.2.2201471.2","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01032-2015"},{"key":"2024102103081138000_61.2.2201471.3","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01913-2018"},{"key":"2024102103081138000_61.2.2201471.4","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1093\/eurheartj\/ehac237","article-title":"2022 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension","volume":"43","author":"Humbert","year":"2022","journal-title":"Eur Heart J"},{"key":"2024102103081138000_61.2.2201471.5","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200510-1668OC"},{"key":"2024102103081138000_61.2.2201471.6","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1056\/NEJMoa2024277","article-title":"Sotatercept for the treatment of pulmonary arterial hypertension","volume":"384","author":"Humbert","year":"2021","journal-title":"N Engl J Med"},{"key":"2024102103081138000_61.2.2201471.7","doi-asserted-by":"crossref","first-page":"20458940211057071","DOI":"10.1177\/20458940211057071","article-title":"TORREY, a phase 2 study to evaluate the efficacy and safety of inhaled seralutinib for the treatment of pulmonary arterial hypertension","volume":"11","author":"Frantz","year":"2021","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.8","first-page":"197","article-title":"\u00dcber Sklerose der Lungenarterie. [On sclerosis of pulmonary arteries.]","volume":"48","author":"von Romberg","year":"1891","journal-title":"Dtsch Archiv Klin Med"},{"key":"2024102103081138000_61.2.2201471.9","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00078411"},{"key":"2024102103081138000_61.2.2201471.10","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s13073-019-0685-z","article-title":"Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension","volume":"11","author":"Zhu","year":"2019","journal-title":"Genome Med"},{"key":"2024102103081138000_61.2.2201471.11","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00008211"},{"key":"2024102103081138000_61.2.2201471.12","first-page":"195","article-title":"Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance","volume":"30","author":"Dresdale","year":"1954","journal-title":"Bull NY Acad Med"},{"key":"2024102103081138000_61.2.2201471.13","first-page":"194","article-title":"Familial primary pulmonary hypertension: clinical patterns","volume":"129","author":"Loyd","year":"1984","journal-title":"Am Rev Respir Dis"},{"key":"2024102103081138000_61.2.2201471.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-277"},{"key":"2024102103081138000_61.2.2201471.15","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.10.1145"},{"key":"2024102103081138000_61.2.2201471.16","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.161.3.9906051"},{"key":"2024102103081138000_61.2.2201471.17","doi-asserted-by":"publisher","DOI":"10.1038\/79226"},{"key":"2024102103081138000_61.2.2201471.18","doi-asserted-by":"publisher","DOI":"10.1086\/303059"},{"key":"2024102103081138000_61.2.2201471.19","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehp297"},{"key":"2024102103081138000_61.2.2201471.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.10.023"},{"key":"2024102103081138000_61.2.2201471.21","doi-asserted-by":"publisher","DOI":"10.1378\/chest.09-1140"},{"key":"2024102103081138000_61.2.2201471.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2013.10.030"},{"key":"2024102103081138000_61.2.2201471.23","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00007814"},{"key":"2024102103081138000_61.2.2201471.24","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1016\/j.healun.2020.09.011","article-title":"Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry","volume":"39","author":"Hoeper","year":"2020","journal-title":"J Heart Lung Transplant"},{"key":"2024102103081138000_61.2.2201471.25","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)61621-8"},{"key":"2024102103081138000_61.2.2201471.26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.10.026"},{"key":"2024102103081138000_61.2.2201471.27","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s12931-022-01987-x","article-title":"Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension","volume":"23","author":"Eichstaedt","year":"2022","journal-title":"Respir Res"},{"key":"2024102103081138000_61.2.2201471.28","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03672-4"},{"key":"2024102103081138000_61.2.2201471.29","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22904"},{"key":"2024102103081138000_61.2.2201471.30","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/s41569-019-0242-x","article-title":"Molecular genetic framework underlying pulmonary arterial hypertension","volume":"17","author":"Southgate","year":"2020","journal-title":"Nat Rev Cardiol"},{"key":"2024102103081138000_61.2.2201471.31","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01899-2018"},{"key":"2024102103081138000_61.2.2201471.32","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201205-0886OC"},{"key":"2024102103081138000_61.2.2201471.33","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-14-3"},{"key":"2024102103081138000_61.2.2201471.34","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12869"},{"key":"2024102103081138000_61.2.2201471.35","doi-asserted-by":"publisher","DOI":"10.1186\/s12890-016-0183-7"},{"key":"2024102103081138000_61.2.2201471.36","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2844"},{"key":"2024102103081138000_61.2.2201471.37","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-2366"},{"key":"2024102103081138000_61.2.2201471.38","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12549"},{"key":"2024102103081138000_61.2.2201471.39","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.117.028351"},{"key":"2024102103081138000_61.2.2201471.40","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.healun.2017.09.022","article-title":"Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease","volume":"37","author":"Nossent","year":"2018","journal-title":"J Heart Lung Transplant"},{"key":"2024102103081138000_61.2.2201471.41","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S2213-2600(15)00544-5","article-title":"BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis","volume":"4","author":"Evans","year":"2016","journal-title":"Lancet Respir Med"},{"key":"2024102103081138000_61.2.2201471.42","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00026-2016"},{"key":"2024102103081138000_61.2.2201471.43","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S2213-2600(16)30438-6","article-title":"Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study","volume":"5","author":"Montani","year":"2017","journal-title":"Lancet Respir Med"},{"key":"2024102103081138000_61.2.2201471.44","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2016.11.014"},{"key":"2024102103081138000_61.2.2201471.45","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1186\/s12890-020-01186-8","article-title":"Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report","volume":"20","author":"Zeng","year":"2020","journal-title":"BMC Pulm Med"},{"key":"2024102103081138000_61.2.2201471.46","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200908-1284OC"},{"key":"2024102103081138000_61.2.2201471.47","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101152"},{"key":"2024102103081138000_61.2.2201471.48","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02340-2019"},{"key":"2024102103081138000_61.2.2201471.49","doi-asserted-by":"crossref","first-page":"e001887","DOI":"10.1161\/CIRCGEN.117.001887","article-title":"Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults","volume":"11","author":"Zhu","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2024102103081138000_61.2.2201471.50","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01965-2018"},{"key":"2024102103081138000_61.2.2201471.51","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02165-2019"},{"key":"2024102103081138000_61.2.2201471.52","doi-asserted-by":"crossref","first-page":"e003155","DOI":"10.1161\/CIRCGEN.120.003155","article-title":"Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension","volume":"14","author":"Swietlik","year":"2021","journal-title":"Circ Genom Precis Med"},{"key":"2024102103081138000_61.2.2201471.53","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/S2213-2600(22)00097-2","article-title":"Phenotyping of idiopathic pulmonary arterial hypertension: a registry analysis","volume":"10","author":"Hoeper","year":"2022","journal-title":"Lancet Respir Med"},{"key":"2024102103081138000_61.2.2201471.54","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-018-0566-x"},{"key":"2024102103081138000_61.2.2201471.55","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.3390\/genes11101213","article-title":"Genetics and genomics of pediatric pulmonary arterial hypertension","volume":"11","author":"Welch","year":"2020","journal-title":"Genes"},{"key":"2024102103081138000_61.2.2201471.56","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00656-2022"},{"key":"2024102103081138000_61.2.2201471.57","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1536\/ihj.20-711","article-title":"SOX17 loss-of-function mutation underlying familial pulmonary arterial hypertension","volume":"62","author":"Wang","year":"2021","journal-title":"Int Heart J"},{"key":"2024102103081138000_61.2.2201471.58","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.02.01762002"},{"key":"2024102103081138000_61.2.2201471.59","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00104807"},{"key":"2024102103081138000_61.2.2201471.60","doi-asserted-by":"crossref","first-page":"2045894019872192","DOI":"10.1177\/2045894019872192","article-title":"Mutually reinforcing effects of genetic variants and interferon-beta 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients","volume":"9","author":"Lerche","year":"2019","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.61","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00051-2015"},{"key":"2024102103081138000_61.2.2201471.62","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00814-2015"},{"key":"2024102103081138000_61.2.2201471.63","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024102103081138000_61.2.2201471.64","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.800938"},{"key":"2024102103081138000_61.2.2201471.65","doi-asserted-by":"crossref","first-page":"e91374","DOI":"10.1371\/journal.pone.0091374","article-title":"Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12\u2005years","volume":"9","author":"Hinderhofer","year":"2014","journal-title":"PLoS One"},{"key":"2024102103081138000_61.2.2201471.66","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-203301"},{"key":"2024102103081138000_61.2.2201471.67","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.118.314270"},{"key":"2024102103081138000_61.2.2201471.68","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.04229-2020"},{"key":"2024102103081138000_61.2.2201471.69","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1378\/chest.15-0535","article-title":"Pulmonary hypertension in hereditary hemorrhagic telangiectasia","volume":"149","author":"Lyle","year":"2016","journal-title":"Chest"},{"key":"2024102103081138000_61.2.2201471.70","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00078-2020"},{"key":"2024102103081138000_61.2.2201471.71","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21605"},{"key":"2024102103081138000_61.2.2201471.72","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1211097"},{"key":"2024102103081138000_61.2.2201471.73","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.961888"},{"key":"2024102103081138000_61.2.2201471.74","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107831"},{"key":"2024102103081138000_61.2.2201471.75","doi-asserted-by":"crossref","first-page":"e002087","DOI":"10.1161\/CIRCGEN.118.002087","article-title":"Loss-of-function ABCC8 mutations in pulmonary arterial hypertension","volume":"11","author":"Bohnen","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2024102103081138000_61.2.2201471.76","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1161\/CIRCULATIONAHA.119.044320","article-title":"Novel mutations and decreased expression of the epigenetic regulator TET2 in pulmonary arterial hypertension","volume":"141","author":"Potus","year":"2020","journal-title":"Circulation"},{"key":"2024102103081138000_61.2.2201471.77","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1042\/CS20160930","article-title":"First identification of Kr\u00fcppel-like factor 2 mutation in heritable pulmonary arterial hypertension","volume":"131","author":"Eichstaedt","year":"2017","journal-title":"Clin Sci"},{"key":"2024102103081138000_61.2.2201471.78","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01371-2018"},{"key":"2024102103081138000_61.2.2201471.79","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00891-1"},{"key":"2024102103081138000_61.2.2201471.80","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1042\/CS20160531","article-title":"Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool","volume":"130","author":"Song","year":"2016","journal-title":"Clin Sci"},{"key":"2024102103081138000_61.2.2201471.81","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.3390\/genes11101191","article-title":"Genetic evaluation in a cohort of 126 Dutch pulmonary arterial hypertension patients","volume":"11","author":"van den Heuvel","year":"2020","journal-title":"Genes"},{"key":"2024102103081138000_61.2.2201471.82","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20880"},{"key":"2024102103081138000_61.2.2201471.83","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1086\/686993","article-title":"Pregnancy as a possible trigger for heritable pulmonary arterial hypertension","volume":"6","author":"Limoges","year":"2016","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.84","doi-asserted-by":"crossref","first-page":"e12053","DOI":"10.1002\/pul2.12053","article-title":"A second hit? Pulmonary arterial hypertension, BMPR2 mutation, and exposure to prescription amphetamines","volume":"12","author":"Jaliawala","year":"2022","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.85","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00717-2015"},{"key":"2024102103081138000_61.2.2201471.86","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s12931-016-0457-x","article-title":"EIF2AK4 mutation as \u201csecond hit\u201d in hereditary pulmonary arterial hypertension","volume":"17","author":"Eichstaedt","year":"2016","journal-title":"Respir Res"},{"key":"2024102103081138000_61.2.2201471.87","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2014.08.124"},{"key":"2024102103081138000_61.2.2201471.88","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2008.02.009"},{"key":"2024102103081138000_61.2.2201471.89","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.601930"},{"key":"2024102103081138000_61.2.2201471.90","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1164\/rccm.201501-0196OC","article-title":"Endothelin-1 pathway polymorphisms affect outcome in pulmonary arterial hypertension","volume":"192","author":"Benza","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102103081138000_61.2.2201471.91","doi-asserted-by":"crossref","first-page":"20458940211037275","DOI":"10.1177\/20458940211037275","article-title":"BMPR2 mutations and response to inhaled or parenteral prostanoids: a case series","volume":"11","author":"Scelsi","year":"2021","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.92","doi-asserted-by":"crossref","first-page":"e12023","DOI":"10.1002\/pul2.12023","article-title":"Sequential combination therapy with parenteral prostacyclin in BMPR2 mutations carriers","volume":"12","author":"Boucly","year":"2022","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.93","doi-asserted-by":"crossref","first-page":"101936","DOI":"10.1016\/j.gde.2022.101936","article-title":"Molecular genetics of pulmonary hypertension in children","volume":"75","author":"Taha","year":"2022","journal-title":"Curr Opin Genet Dev"},{"key":"2024102103081138000_61.2.2201471.94","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.jpeds.2020.05.051","article-title":"The genetic epidemiology of pediatric pulmonary arterial hypertension","volume":"225","author":"Haarman","year":"2020","journal-title":"J Pediatr"},{"key":"2024102103081138000_61.2.2201471.95","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1164\/rccm.201802-0317LE","article-title":"Natural history over 8\u2005years of pulmonary vascular disease in a patient carrying bi-allelic EIF2AK4 mutations","volume":"198","author":"Montani","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102103081138000_61.2.2201471.96","doi-asserted-by":"crossref","first-page":"2045894020931315","DOI":"10.1177\/2045894020931315","article-title":"A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype","volume":"10","author":"Oriaku","year":"2020","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.97","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e31818193bb"},{"key":"2024102103081138000_61.2.2201471.98","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.3390\/genes11101158","article-title":"Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension","volume":"11","author":"Tenorio Casta\u00f1o","year":"2020","journal-title":"Genes"},{"key":"2024102103081138000_61.2.2201471.99","doi-asserted-by":"crossref","first-page":"e12108","DOI":"10.1002\/pul2.12108","article-title":"Persistence of persistent pulmonary hypertension of the newborn: a case of de novo TBX4 variant","volume":"12","author":"Tsoi","year":"2022","journal-title":"Pulm Circ"},{"key":"2024102103081138000_61.2.2201471.100","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01609-2018"},{"key":"2024102103081138000_61.2.2201471.101","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1002\/ccr3.610","article-title":"Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene","volume":"4","author":"Baloira","year":"2016","journal-title":"Clin Case Rep"},{"key":"2024102103081138000_61.2.2201471.102","doi-asserted-by":"crossref","first-page":"e19","DOI":"10.1016\/j.arbres.2014.03.022","article-title":"Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis","volume":"51","author":"Baloira Villar","year":"2015","journal-title":"Arch Bronconeumol"},{"key":"2024102103081138000_61.2.2201471.103","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1038\/s41598-018-37277-0","article-title":"A combined targeted and whole exome sequencing approach identified novel candidate genes involved in heritable pulmonary arterial hypertension","volume":"9","author":"Barozzi","year":"2019","journal-title":"Sci Rep"},{"key":"2024102103081138000_61.2.2201471.104","first-page":"182","article-title":"Extensive pulmonary sarcoid reaction in a patient with BMPR-2 associated idiopathic pulmonary arterial hypertension","volume":"33","author":"Braam","year":"2016","journal-title":"Sarcoidosis Vasc Diffuse Lung Dis"},{"key":"2024102103081138000_61.2.2201471.105","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.3390\/ijms21093339","article-title":"Myeloproliferative diseases as possible risk factor for development of chronic thromboembolic pulmonary hypertension \u2013 a genetic study","volume":"21","author":"Eichstaedt","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2024102103081138000_61.2.2201471.106","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00408-014-9580-y","article-title":"BMPR2 germline mutation in chronic thromboembolic pulmonary hypertension","volume":"192","author":"Feng","year":"2014","journal-title":"Lung"}],"container-title":["European Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/13993003.01471-2022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T07:09:45Z","timestamp":1740380985000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/13993003.01471-2022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,27]]},"references-count":106,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2,23]]},"published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1183\/13993003.01471-2022"],"URL":"https:\/\/doi.org\/10.1183\/13993003.01471-2022","relation":{},"ISSN":["0903-1936","1399-3003"],"issn-type":[{"value":"0903-1936","type":"print"},{"value":"1399-3003","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,27]]}}}