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Planet, Martin; Ducos, Yohan; Eyries, Melanie; Marijon, Pauline; Bielle, Franck; Rosa, Lucas Rincon De La; Alentorn, Agusti; Mathon, Bertrand; Coulet, Florence; Kalamarides, Michel; Peyre, Matthieu .png)
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SaveShare Save Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial HypertensionHong, Jason; Medzikovic, Lejla; Sun, Wasila; Wong, Brenda; Ruffenach, Gregoire; Rhodes, Christopher J.; Brownstein, Adam; Liang, Lloyd L.; Aryan, Laila; Li, Min; Vadgama, Arjun; Kurt, Zeyneb; Schwantes-An, Tae-Hwi; Mickler, Elizabeth A.; Graf, Stefan; Eyries, Melanie; Lutz, Katie A.; Pauciulo, Michael W.; Trembath, Richard C.; Perros, Frederic; Montani, David; Morrell, Nicholas W.; Soubrier, Florent; Wilkins, Martin R.; Nichols, William C.; Aldred, Micheala A.; Desai, Ankit A.; Tregouet, David-Alexandre; Umar, Soban; Saggar, Rajan; Channick, Richard; Tuder, Rubin M.; Geraci, Mark W.; Stearman, Robert S.; Yang, Xia; Eghbali, Mansoureh Share Save Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA (vol 19, 213, 2024)Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka Share Save Role of KCNK3 Dysfunction in Dasatinib-associated Pulmonary Arterial Hypertension and Endothelial Cell DysfunctionLe Ribeuz, Helene; Willer, Anais Saint-Martin; Chevalier, Benoit; Sancho, Maria; Masson, Bastien; Eyries, Melanie; Jung, Vincent; Guerrera, Ida Chiara; Dutheil, Mary; El Jekmek, Kristelle; Laubry, Loann; Carpentier, Gilles; Perez-Vizcaino, Francisco; Tu, Ly; Guignabert, Christophe; Chaumais, Marie-Camille; Pechoux, Christine; Humbert, Marc; Hinzpeter, Alexandre; Mercier, Olaf; Capuano, Veronique; Montani, David; Antigny, Fabrice Share Save Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCARevencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gasdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schoenewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka Share Save Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre studyGrynblat, Julien; Bogaard, Harm Jan; Eyries, Melanie; Meyrignac, Olivier; Savale, Laurent; Jais, Xavier; Ghigna, Maria-Rosa; Celant, Lucas; Meijboom, Lilian; Houweling, Arjan C.; Levy, Marilyne; Antigny, Fabrice; Chaouat, Ari; Cottin, Vincent; Guignabert, Christophe; Coulet, Florence; Sitbon, Olivier; Bonnet, Damien; Humbert, Marc; Montani, David Share Save Late-Onset Status Epilepticus Associated With Isolated Leptomeningeal Angioma and Sturge-Weber Syndrome-Related GNA11 Pathogenic VariationCousyn, Louis; Leclercq, Delphine; Ta, Minh Chau; Gilbert, Francois; Di Meglio, Lucas; Marois, Clemence; Haddad, Andrei; Mathon, Bertrand; Eyries, Melanie; Navarro, Vincent Share Save Share Save Molecular Function and Contribution of TBX4 in Development and DiseaseKarolak, Justyna A.; Welch, Carrie L.; Mosimann, Christian; Bzdega, Katarzyna; West, James D.; Montani, David; Eyries, Melanie; Mullen, Mary P.; Abman, Steven H.; Prapa, Matina; Graf, Stefan; Morrell, Nicholas W.; Hemnes, Anna R.; Perros, Frederic; Hamid, Rizwan; Logan, Malcolm P. O.; Whitsett, Jeffrey; Galambos, Csaba; Stankiewicz, Pawel; Chung, Wendy K.; Austin, Eric D. Share Save Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variantsGuilhem, Alexandre; Dupuis-Girod, Sophie; Espitia, Olivier; Riviere, Sophie; Seguier, Julie; Kerjouan, Mallorie; Lavigne, Christian; Maillard, Helene; Magro, Pascal; Alric, Laurent; Lipsker, Dan; Parrot, Antoine; Leguy, Vanessa; Vanlemmens, Claire; Guibaud, Laurent; Vikkula, Miikka; Eyries, Melanie; Valette, Pierre-Jean; Giraud, Sophie Share Save First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung DiseasePrapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M.; Montani, David; Eyries, Melanie; Humbert, Marc; Welch, Carrie L.; Chung, Wendy K.; Berger, Rolf M. F.; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subias, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara M. A.; Kerstjens-Frederikse, Wilhelmina; Kiely, David G.; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J.; Schotte, Gwen; Tenorio-Castano, Jair; Thompson, A. A. Roger; Wharton, John; Wort, Stephen J.; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M.; Martin, Jennifer M.; Li, Wei; Swift, Andrew J.; Upton, Paul D.; Morrell, Nicholas W.; Graf, Stefan; Valverde, Diana Share Save First histological description of pulmonary and vascular abnormalities of pulmonary hypertension associated with KDR pathogenic variantRiou, Marianne; Canuet, Matthieu; Ghigna, Maria-Rosa; Eyries, Melanie; Chenard, Marie Pierrette; Porzio, Michele; Olland, Anne; Humbert, Marc; Kessler, Romain; Montani, David Share Save Share Save An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variantsMontani, David; Lechartier, Benoit; Girerd, Barbara; Eyries, Melanie; Ghigna, Maria-Rosa; Savale, Laurent; Jais, Xavier; Seferian, Andrei; Jevnikar, Mitja; Boucly, Athenais; Riou, Marianne; Traclet, Julie; Chaouat, Ari; Levy, Maryline; Le Pavec, Jerome; Fadel, Elie; Perros, Frederic; Soubrier, Florent; Remy-Jardin, Martine; Sitbon, Olivier; Bonnet, Damien; Humbert, Marc Share Save Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlationsEl Sissy, F. N.; Wassef, M.; Faucon, B.; Salvan, D.; Nadaud, S.; Coulet, F.; Adle-Biassette, H.; Soubrier, F.; Bisdorff, A.; Eyries, M. Share Save Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic dataEyries, Melanie; Ariste, Olivier; Legrand, Gaelle; Basset, Noemie; Guillerm, Erell; Perrier, Alexandre; Duros, Caroline; Cohen-Haguenauer, Odile; de la Grange, Pierre; Coulet, Florence Share Save Hepatic Arteriovenous Malformation: The Search for a PTEN Mutation!Duhaut, Lea; Eyries, Melanie; Lewin, Maite; Ciacio, Oriana; Kounis, Ilias; Cherqui, Daniel; Antonini, Teresa; Duclos-Vallee, Jean-Charles; Feray, Cyrille; Samuel, Didier; Guettier, Catherine; Coilly, Audrey Share Save Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial HypertensionSwietlik, Emilia M.; Greene, Daniel; Zhu, Na; Megy, Karyn; Cogliano, Marcella; Rajaram, Smitha; Pandya, Divya; Tilly, Tobias; Lutz, Katie A.; Welch, Carrie C. L.; Pauciulo, Michael W.; Southgate, Laura; Martin, Jennifer M.; Treacy, Carmen M.; Penkett, Christopher J.; Stephens, Jonathan C.; Bogaard, Harm J.; Church, Colin; Coghlan, Gerry; Coleman, Anna W.; Condliffe, Robin; Eichstaedt, Christina A.; Eyries, Melanie; Gall, Henning; Ghio, Stefano; Girerd, Barbara; Grunig, Ekkehard; Holden, Simon; Howard, Luke; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lordan, Jim; Machado, Rajiv D.; Ross, Robert V. Mackenzie; McCabe, Colm; Moledina, Shahin; Montani, David; Olschewski, Horst; Pepke-Zaba, Joanna; Price, Laura; Rhodes, Christopher J.; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark R.; Noordegraaf, Anton Vonk; Wharton, John; Wild, James M.; Wort, Stephen John; Lawrie, Allan; Wilkins, Martin R.; Trembath, Richard C.; Shen, Yufeng; Chung, Wendy K.; Swift, Andrew J.; Nichols, William C.; Morrell, Nicholas W.; Graf, Stefan Share Save Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutationMontani, David; Girerd, Barbara; Jais, Xavier; Laveneziana, Pierantonio; Lau, Edmund M. T.; Bouchachi, Amir; Hascoet, Sebastien; Gunther, Sven; Godinas, Laurent; Parent, Florence; Guignabert, Christophe; Beurnier, Antoine; Chemla, Denis; Herve, Philippe; Eyries, Melanie; Soubrier, Florent; Simonneau, Gerald; Sitbon, Olivier; Savale, Laurent; Humbert, Marc Share Save 
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