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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
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). Welch CL, et al. Among authors: shaukat m. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Eichstaedt CA, Saßmannshausen Z, Shaukat M, Cao D, Xanthouli P, Gall H, Sommer N, Ghofrani HA, Seyfarth HJ, Lerche M, Halank M, Kleymann J, Benjamin N, Harutyunova S, Egenlauf B, Milger K, Rosenkranz S, Ewert R, Klose H, Hoeper MM, Olsson KM, Lankeit M, Lange TJ, Hinderhofer K, Grünig E. Eichstaedt CA, et al. Among authors: shaukat m. Respir Res. 2022 Mar 27;23(1):74. doi: 10.1186/s12931-022-01987-x. Respir Res. 2022. PMID: 35346192 Free PMC article.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; for PAH-ICON associated with the PVRI. Eichstaedt CA, et al. Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36302552 Free PMC article.
[Heritable pulmonary arterial hypertension].
Eichstaedt CA, Shaukat M, Grünig E. Eichstaedt CA, et al. Among authors: shaukat m. Inn Med (Heidelb). 2024 May 21. doi: 10.1007/s00108-024-01718-y. Online ahead of print. Inn Med (Heidelb). 2024. PMID: 38771375 Review. German.
97 results