Publications scientifiques

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Auteurs : Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI).

Sources : Genet Med. 2023 Jul 5;25(11):100925.

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Auteurs : Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI).

Sources : Genet Med. 2023 Jul 5;25(11):100925.

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.

Auteurs : Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF.

Sources : JAMA Otolaryngol Head Neck Surg. 2023 Jul 1;149(7):587-596.

Bronchiectasis in Europe: data on disease characteristics from the European Bronchiectasis registry (EMBARC).

Auteurs : Chalmers JD, Polverino E, Crichton ML, Ringshausen FC, De Soyza A, Vendrell M, Burgel PR, Haworth CS, Loebinger MR, Dimakou K, Murris M, Wilson R, Hill AT, Menendez R, Torres A, Welte T, Blasi F, Altenburg J, Shteinberg M, Boersma W, Elborn JS, Goeminne PC, Aliberti S; EMBARC Registry Investigators.

Sources : Lancet Respir Med. 2023 Jul;11(7):637-649.

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.

Auteurs : Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF.

Sources : JAMA Otolaryngol Head Neck Surg. 2023 Jul 1;149(7):587-596.

Patients’ perceptions on clinical trials outcomes in pulmonary arterial hypertension therapy.

Auteurs : Mai V, Gosselin C, Tremblay É, Rompré G, Lajoie AC, Weatherald J, Lega JC, Bonnet S, Provencher S.

Sources : Thorax. 2023 Jul;78(7):721-725.

Inhaled treprostinil for interstitial lung disease-associated pulmonary hypertension: a silver lining on a very dark cloud.

Auteurs : Cottin V, Valenzuela C, Humbert M.

Sources : Eur Respir J. 2023 Jun 29;61(6):2300944.

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Auteurs : Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N.

Sources : Eur J Hum Genet. 2023 Jun 28.

Management of Pulmonary Arterial Hypertension.

Auteurs : Weatherald J, Varughese RA, Liu J, Humbert M.

Sources : Semin Respir Crit Care Med. 2023 Jun 27.

Management of Acutely Decompensated Pulmonary Hypertension.

Auteurs : Savale L, Kularatne M, Roche A, Pichon J, Baron A, Boucly A, Sitbon O, Humbert M.

Sources : Semin Respir Crit Care Med. 2023 Jun 27.