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Human Mutation|January 24, 2006
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertensionMicheala A Aldred, Jairam Vijayakrishnan, Victoria James, et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical|April 7, 2018
Feasibility of mesenchymal stem cell culture expansion for a phase I clinical trial in multiple sclerosisSarah M Planchon, Karen T Lingas, Jane Reese Koç, et al.
Blood|March 8, 2024
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHTMaria E Bernabéu-Herrero, Dilipkumar Patel, Adrianna Bielowka, et al.
The American Journal of Pathology|February 9, 2008
Circulating angiogenic precursors in idiopathic pulmonary arterial hypertensionKewal Asosingh, Micheala A Aldred, Amit Vasanji, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
Defining the clinical validity of genes reported to cause pulmonary arterial hypertensionCarrie L Welch, Micheala A Aldred, Srimmitha Balachandar, et al.
American Journal of Human Genetics|October 10, 2023
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNASihao Xiao, Zhentian Kai, Daniel Murphy, et al.
Human Mutation|July 15, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Pulmonary Circulation|April 27, 2023
RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertensionClare C Prohaska, Xu Zhang, Tae-Hwi L Schwantes-An, et al.
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Nature Medicine|June 16, 2015
Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertensionLu Long, Mark L Ormiston, Xudong Yang, et al.
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