日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

ACMG/AMP指南在肺动脉高压BMPR2变异体临床分类中的应用解决了ClinVar数据库中致病性不明的变异体问题。

Eichstaedt, Christina A; Maldonado-Velez, Gabriel; Machado, Rajiv D; Gräf, Stefan; Dooijes, Dennis; Balachandar, Srimmitha; Coulet, Florence; Day, Kristina; Eyries, Melanie; Macaya, Daniela; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Chung, Wendy K; Welch, Carrie L; Aldred, Micheala A

Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension

肺部整合多组学研究揭示了天冬氨酸蛋白在肺动脉高压中的保护作用

Hong, Jason; Medzikovic, Lejla; Sun, Wasila; Wong, Brenda; Ruffenach, Grégoire; Rhodes, Christopher J; Brownstein, Adam; Liang, Lloyd L; Aryan, Laila; Li, Min; Vadgama, Arjun; Kurt, Zeyneb; Schwantes-An, Tae-Hwi; Mickler, Elizabeth A; Gräf, Stefan; Eyries, Mélanie; Lutz, Katie A; Pauciulo, Michael W; Trembath, Richard C; Perros, Frédéric; Montani, David; Morrell, Nicholas W; Soubrier, Florent; Wilkins, Martin R; Nichols, William C; Aldred, Micheala A; Desai, Ankit A; Trégouët, David-Alexandre; Umar, Soban; Saggar, Rajan; Channick, Richard; Tuder, Rubin M; Geraci, Mark W; Stearman, Robert S; Yang, Xia; Eghbali, Mansoureh

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

VASCERN-VASCA对血管异常中体细胞变异的基因-疾病关联进行评估并提出基因检测建议

Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

更正:VASCERN-VASCA 对血管畸形体细胞变异的基因-疾病关联评估及基因检测建议

Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

uAUG 在 ENG 的 5'UTR 中产生变异,导致遗传性出血性毛细血管扩张症

Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David-Alexandre Trégouët

Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension

利用整合多组学方法解析肺动脉高压的肺部转录组图谱

Hong, Jason; Wong, Brenda; Rhodes, Christopher J; Kurt, Zeyneb; Schwantes-An, Tae-Hwi; Mickler, Elizabeth A; Gräf, Stefan; Eyries, Mélanie; Lutz, Katie A; Pauciulo, Michael W; Trembath, Richard C; Montani, David; Morrell, Nicholas W; Wilkins, Martin R; Nichols, William C; Trégouët, David-Alexandre; Aldred, Micheala A; Desai, Ankit A; Tuder, Rubin M; Geraci, Mark W; Eghbali, Mansoureh; Stearman, Robert S; Yang, Xia

An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants

携带SOX17变异的肺动脉高压患者的一种新表型

Montani, David; Lechartier, Benoit; Girerd, Barbara; Eyries, Mélanie; Ghigna, Maria-Rosa; Savale, Laurent; Jaïs, Xavier; Seferian, Andrei; Jevnikar, Mitja; Boucly, Athénais; Riou, Marianne; Traclet, Julie; Chaouat, Ari; Levy, Maryline; Le Pavec, Jerome; Fadel, Elie; Perros, Frédéric; Soubrier, Florent; Remy-Jardin, Martine; Sitbon, Olivier; Bonnet, Damien; Humbert, Marc

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

TBX4综合征首个基因型-表型研究:功能获得性突变导致肺部疾病

Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M; Montani, David; Eyries, Mélanie; Humbert, Marc; Welch, Carrie L; Chung, Wendy K; Berger, Rolf M F; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subías, 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-Castaño, 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; Gräf, Stefan; Valverde, Diana

Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype

儿童脑动静脉高流量分流:从基因型到表型

Tas, Berivan; Starnoni, Daniele; Smajda, Stanislas; Vivanti, Alexandre J; Adamsbaum, Catherine; Eyries, Mélanie; Melki, Judith; Tawk, Marcel; Ozanne, Augustin; Revencu, Nicole; Soubrier, Florent; Siala, Selima; Vikkula, Miikka; Deiva, Kumaran; Saliou, Guillaume

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation

对携带 BMPR2 突变的成年人进行肺动脉高压筛查

Montani, David; Girerd, Barbara; Jaïs, Xavier; Laveneziana, Pierantonio; Lau, Edmund M T; Bouchachi, Amir; Hascoët, Sébastien; Günther, Sven; Godinas, Laurent; Parent, Florence; Guignabert, Christophe; Beurnier, Antoine; Chemla, Denis; Hervé, Philippe; Eyries, Mélanie; Soubrier, Florent; Simonneau, Gérald; Sitbon, Olivier; Savale, Laurent; Humbert, Marc