Dr SIOBHAN LOUGHNA's Outputs (3)

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development (2024)
Journal Article
Waheed‐Ullah, Q., Wilsdon, A., Abbad, A., Rochette, S., Bu'Lock, F., Saed, A. A., Hitz, M., Brook, J. D., & Loughna, S. (2024). Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development. Journal of Anatomy, https://doi.org/10.1111/joa.14175

Congenital heart disease (CHD) has an incidence of approximately 1%. Over the last decade, sequencing studies including large cohorts of individuals with CHD have begun to unravel the genetic mechanisms underpinning CHD. This includes the identificat... Read More about Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development.

Human Genetics of Congenital Heart Defects (2024)
Book Chapter
Wilsdon, A., & Loughna, S. (2024). Human Genetics of Congenital Heart Defects. . https://doi.org/10.1007/978-3-031-44087-8_2

Congenital heart diseases (or congenital heart defects/disorders; CHDs) are structural abnormalities of the heart and/or great vessels that are present at birth. CHDs include an extensive range of defects that may be minor and require no intervention... Read More about Human Genetics of Congenital Heart Defects.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart (2024)
Journal Article
Waheed‐Ullah, Q., Wilsdon, A., Abbad, A., Rochette, S., Bu'Lock, F., Hitz, M., Dombrowsky, G., Cuello, F., Brook, J. D., & Loughna, S. (2024). Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart. Journal of Anatomy, 245(1), 70-83. https://doi.org/10.1111/joa.14033

Congenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD.... Read More about Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.