Author details

Full Name

Martina Brueckner

Affiliation

ORCID

Career Start Year

1989

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38009418	Association of genetic and sulcal traits with executive function in congenital heart disease.	Ann Clin Transl Neurol	2024
36920028	Inactivation of / in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.		2023
38038666	The H2Bub1-deposition complex is required for human and mouse cardiogenesis.	Development	2023
36701153	Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.	JAMA Netw Open	2023
36866680	Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.	Circ Genom Precis Med	2023
36803080	Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.	Circ Genom Precis Med	2023
37043537	Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.	Proc Natl Acad Sci U S A	2023
36603098	Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry.		2023
37165897	Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.	Circ Genom Precis Med	2023
35130025	Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.	Circ Genom Precis Med	2022
35397206	Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.	Am J Hum Genet	2022
35481623	Mutation spectrum of congenital heart disease in a consanguineous Turkish population.	Mol Genet Genomic Med	2022
35671298	Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.	PLoS Genetics	2022
35666111	Quantifying concordant genetic effects of de novo mutations on multiple disorders.	Elife	2022
34862511	A change of heart: new roles for cilia in cardiac development and disease.	Nature Reviews Cardiology	2022
33557580	Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.	Circ Res	2021
35414959	Integrative modeling of transmitted and <i>de novo</i> variants identifies novel risk genes for congenital heart disease.	Quant Biol	2021
34209044	Molecular Genetics and Complex Inheritance of Congenital Heart Disease.	Genes	2021
32812804	De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.	Circ Genom Precis Med	2020
32368696	Systems Analysis Implicates WAVE2Â Complex in the Pathogenesis ofÂ Developmental Left-Sided ObstructiveÂ Heart Defects.	JACC Basic Transl Sci	2020
32341405	De novo damaging variants associated with congenital heart diseases contribute to the connectome.	Sci Rep	2020
32601476	Genomic analyses implicate noncoding de novo variants in congenital heart disease.	Nat Genet	2020
31235600	Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.	Proc Natl Acad Sci U S A	2019
29731308	NUP98 Sets the Size-Exclusion Diffusion Limit through the Ciliary Base.	Current Biology	2018
30571578	Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.	Circulation	2018
29351346	The Congenital Heart Disease Genetic Network Study: Cohort description.	PLoS One	2018
29527824	Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.	Hum Mutat	2018
29738734	Left-Right Asymmetry: Myosin 1D at the Center.	Current Biology	2018
29417219	Robust identification of mosaic variants in congenital heart disease.	Hum Genet	2018
28302740	Genetics and Genomics of Congenital Heart Disease.	Circulation Research	2017
28991257	Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.	Nat Genet	2017
28872494	The genetics of congenital heart diseaseâ¿¦ understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.	Current Opinion in Pediatrics	2017
27670201	Loss of RNA expression and allele-specific expression associated with congenital heart disease.	Nat Commun	2016
26909801	DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.	Am J Respir Cell Mol Biol	2016
27514920	Visualization and Manipulation of Cilia and Intraciliary Calcium in the Zebrafish Left-Right Organizer.	Methods in Molecular Biology	2016
26493400	The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry.	Development	2015
25660539	Intraciliary calcium oscillations initiate vertebrate left-right asymmetry.	Current Biology	2015
26785492	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.	Science	2015
25205790	Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.	Circ Res	2014
24771342	CANOES: detecting rare copy number variants from whole exome sequencing data.	Nucleic Acids Res	2014
23410879	The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.	Circ Res	2013
23790954	Congenital heart disease: emerging themes linking genetics and development.	Current Opinion in Genetics and Development	2013
24226769	The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.	Nature	2013
23665959	De novo mutations in histone-modifying genes in congenital heart disease.	Nature	2013
22233545	RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow.	Developmental Biology	2012
22499951	Impact of genetic diagnosis on clinical management of patients with congenital heart disease: cilia point the way.	Circulation	2012
21282601	Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.	Proc Natl Acad Sci U S A	2011
19386257	Fibroblast "cilia growth" factor in the development of left-right asymmetry.	Developmental Cell	2009
18729223	Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis.	Developmental Dynamics	2008
19147005	Cilia multifunctional organelles at the center of vertebrate left-right asymmetry.	Current Topics in Developmental Biology	2008