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List of works by Siddharth K Prakash

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome

scientific article published on 11 January 2019

45,X mosaicism in a population-based biobank: implications for Turner syndrome

scientific article published on 21 December 2018

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

scientific article

MAT2A mutations predispose individuals to thoracic aortic aneurysms

scientific article

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

scientific article published on 03 August 2020

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

The Turner syndrome research registry: Creating equipoise between investigators and participants

scientific article published on 13 February 2019

The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome

scientific article published on 27 February 2019

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