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List of works by Paula Louise Hedley

A necrogenomic registry's potential

scientific article published in January 2016

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity

scientific article published on 11 April 2012

ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome

ADAM 12-S in first trimester: fetal gender, smoking and maternal age influence the maternal serum concentration.

scientific article published in May 2009

ADAM12 in first trimester maternal serum from pregnancies conceived by assisted reproduction techniques (ART).

scientific article published in June 2009

Adipokines in umbilical cord blood from children born large for gestational age.

scientific article published on 18 July 2015

Adipose expression of adipocytokines in women with polycystic ovary syndrome

scientific article

Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.

scientific article

Complex spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes

scientific article published in PLoS ONE

Cytochrome P450 polymorphism and postoperative cognitive dysfunction.

scientific article published in March 2012

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

scientific article

Ethical issues related to screening for preeclampsia

scientific article published on 20 September 2012

Fc γ receptor IIIB (FcγRIIIB) polymorphisms are associated with clinical malaria in Ghanaian children

scientific article

Flecainide Provocation Reveals Concealed Brugada Syndrome in a Long QT Syndrome Family With a Novel L1786Q Mutation in SCN5A

article

Free leptin index and PAPP-A: a first trimester maternal serum screening test for pre-eclampsia

scientific article published on 01 February 2010

HIV-1 Vertical Transmission in Zimbabwe in 622 Mother and Infant Pairs: Rethinking the Contribution of Mannose Binding Lectin Deficiency in Africa

scientific article published on 17 June 2016

Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

scientific article

High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation

scientific article published on 8 June 2012

High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.

scientific article published in June 2006

Including ethical considerations in models for first-trimester screening for pre-eclampsia

scientific article published on 7 February 2014

Increased risk of preterm delivery and pre-eclampsia in women with polycystic ovary syndrome and hyperandrogenaemia

scientific article published on 13 January 2014

Leptin in first trimester pregnancy serum: no reduction associated with small-for-gestational-age infants

scientific article published on 01 June 2009

Long QT syndrome in South Africa: the results of comprehensive genetic screening

scientific article published in July 2013

Long QT testing: implications for complex diagnosis in personalized medicine

Longitudinal changes in C-reactive protein, proform of eosinophil major basic protein, and pregnancy-associated plasma protein-A during weight changes in obese children

scientific article published in March 2015

MT-CYB mutations in hypertrophic cardiomyopathy.

scientific article published on 12 April 2013

MT-CYB mutations in hypertrophic cardiomyopathy.

scientific article published on 10 September 2013

Maternal Serum Resistin Is Reduced in First Trimester Preeclampsia Pregnancies and Is a Marker of Clinical Severity

scientific article published on 4 December 2015

Metabolic rather than body composition measurements are associated with lower serum natriuretic peptide concentrations in normal weight and obese men.

scientific article published on 11 September 2013

MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndrome

scientific article

Mitochondrial DNA SNPs associated with Schizophrenia exhibit Highly Variable Inter-allelic Haplogroup Affiliation and Nuclear Genogeographic Affinity: Bi-Genomic Linkage Disequilibrium raises Major Concerns for Link to Disease

Mitochondrial haplogroups are associated with hypertrophic cardiomyopathy in the Indian population

scholarly article by Michael Christiansen published in January 2015

Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population.

scientific article

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

scientific article

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

scientific article

Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation

scientific article

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

scientific article published on 01 March 2008

Obese hypertensive men have plasma concentrations of C-reactive protein similar to that of obese normotensive men.

scientific article published on 8 March 2014

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

scientific article

Polymorphisms in the RNASE3 gene are associated with susceptibility to cerebral malaria in Ghanaian children

scientific article

Pregnancy-associated plasma protein-A (PAPP-A) and the proform of the eosinophil major basic protein (ProMBP) are associated with increased risk of death in heart failure patients

scientific article published on 24 May 2017

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.

scientific article published on 29 April 2015

Reference values for fasting serum resistin in healthy children and adolescents.

scientific article published on 6 April 2017

Reference values for serum leptin in healthy non-obese children and adolescents

scientific article published on 9 August 2016

Relative atrial natriuretic peptide deficiency and inadequate renin and angiotensin II suppression in obese hypertensive men.

scientific article published on 13 May 2013

Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease

scientific article published in PLoS ONE

Serum leptin in first-trimester Down syndrome pregnancies

scientific article published on 01 June 2008

Serum proatrial natriuretic peptide does not increase with higher systolic blood pressure in obese men.

scientific article published on 5 August 2016

Short QT syndrome as an inherited condition ⬇️

scientific article published in February 2011

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

scientific article

The genetic basis of Brugada syndrome: a mutation update

scientific article

The genetic basis of long QT and short QT syndromes: a mutation update

scientific article

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote

scientific article

The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy

scientific article published in November 2009

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

scientific article

Therapeutic hypothermia and ventricular fibrillation storm in early repolarization syndrome

scientific article published on 03 March 2010

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