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List of works by Martina Brueckner

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

scientific article published on 21 October 2020

CANOES: detecting rare copy number variants from whole exome sequencing data

scientific article

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

scientific article published on 9 October 2017

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

scientific article published on 17 October 2019

De novo damaging variants associated with congenital heart diseases contribute to the connectome

scientific article published on 27 April 2020

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

scientific article published on 29 April 2020

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

scientific article published on 24 June 2019

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

Robust identification of mosaic variants in congenital heart disease

scientific article published on 7 February 2018

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