Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension

Deep phenotyping the right ventricle to establish translational MRI biomarkers for characterization of adaptive and maladaptive states in pulmonary hypertension
Nicoleta Baxan, Lin Zhao, Ali Ashek, Marili Niglas, Dingyi Wang, Fatemeh Khassafi, Farah Sabrin, Olivier Dubois, Chien-Nien Chen, Soni Savai Pullamsetti, Martin Wilkins and Lan Zhao 2024. Deep phenotyping the right ventricle to establish translational MRI biomarkers for characterization of adaptive and maladaptive states in pulmonary hypertension. Scientific Reports. 14 29774. https://doi.org/10.1038/s41598-024-79029-3

Pulmonary Hypertension-Associated Right Ventricular Cardiomyocyte Remodelling Reduces Treprostinil Function
Aleksandra Judina, Marili Niglas, Vladislav Leonov, Nicholas S. Kirkby, Ivan Diakonov, Peter Wright, Lan Zhao, Jane A. Mitchell and Julia Gorelik 2023. Pulmonary Hypertension-Associated Right Ventricular Cardiomyocyte Remodelling Reduces Treprostinil Function. Cells. 12 (23) 2764. https://doi.org/10.3390/cells12232764

Preprint: Automated Cobb Angle Measurement at Scale: Identifying Undiagnosed Scoliosis in the UK Biobank
Marili Niglas, Brandon Whitcher, Marjola Thanaj, Nicolas Basty, Camilo Bell-Bradford, Liliana Szabo, Elizabeth Louise Thomas and Jimmy D Bell 2025. Preprint: Automated Cobb Angle Measurement at Scale: Identifying Undiagnosed Scoliosis in the UK Biobank. medRxiv. https://doi.org/10.1101/2025.03.28.25324832

Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness
Yotam Levy, Jacob A. Ross, Marili Niglas, Vladimir A. Snetkov, Steven Lynham, Chen-Yu Liao, Megan J. Puckelwartz, Yueh-Mei Hsu, Elizabeth M. McNally, Manfred Alsheimer, Stephen D.R. Harridge, Stephen G. Young, Loren G. Fong, Yaiza Español, Carlos Lopez-Otin, Brian K. Kennedy, Dawn A. Lowe and Julien Ochala 2018. Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness. JCI Insight. 3 (19) e120920. https://doi.org/10.1172/jci.insight.120920