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List of works by Ana Töpf

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

scientific article published on 13 April 2012

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

scientific article

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

scientific article published on 01 June 2021

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

scientific article

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

scientific article published on 26 May 2013

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

scientific article

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

scientific article

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

scientific article

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

scientific article published in 2024

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

scientific article published on 11 June 2020

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