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

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

明确已报道的导致肺动脉高压的基因的临床有效性

Welch, Carrie L; Aldred, Micheala A; Balachandar, Srimmitha; Dooijes, Dennis; Eichstaedt, Christina A; Gräf, Stefan; Houweling, Arjan C; Machado, Rajiv D; Pandya, Divya; Prapa, Matina; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Chung, Wendy K

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

鉴定和验证了 GDF2 (BMP9) 中一种新的致病变异,该变异导致遗传性出血性毛细血管扩张症和肺动静脉畸形

Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, Aldred Micheala A, Shovlin Claire L