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OC01.03: Incidence of stillbirth is increased in familial LQTS: a retrospective study from eight international centres

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.2-2

2017

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Effet fondateur et estimation de l’âge de la mutation fondatrice dans trois pays maghrébins : à propos de 66 patients atteints du syndrome d’Allgrove

Annales d'endocrinologie, 2016-09, Vol.77 (4), p.309-310

2016

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Brugada Syndrome in New Zealand: The Experience of the National Cardiac Inherited Disease Group

Heart, lung & circulation, 2022, Vol.31, p.S7-S7

2022

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The Cardiac Inherited Disease Group's Experience of Brugada Syndrome in New Zealand

Heart, lung & circulation, 2021, Vol.30, p.S68

2021

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Significance of the Carriage of Sarcomeric Mutations in Hypertrophic Cardiomyopathy in New Zealand

Heart, lung & circulation, 2021, Vol.30, p.S61

2021

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetics in medicine, 2021-01

2021

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Differential expression profile of microRNA in yak skeletal muscle and adipose tissue during development

Genes & genomics, 2020-11, p.1347-1359

2020

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Differential expression profile of microRNA in yak skeletal muscle and adipose tissue during development

Genes & Genomics, 2020, 42(11), , pp.1347-1359

2020

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Population‐based register study of children born in Sweden from 1997 to 2014 showed an increase in rickets during infancy

Acta Paediatrica, 2019-11, Vol.108 (11), p.2034-2040

2019

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Functional coculture of sympathetic neurons and cardiomyocytes derived from human-induced pluripotent stem cells

American journal of physiology. Heart and circulatory physiology, 2020-11, Vol.319 (5), p.H927-H937

2020

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Functional hyperactivity in long OT syndrome type 1 pluripotent stem cell-derived sympathetic neurons

American journal of physiology. Heart and circulatory physiology, 2021-07, Vol.321 (1), p.H217

2021

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LQTS founder population in Northern Sweden - the natural history of a potentially fatal inherited cardiac disorder

Biodemography and social biology, 2020-10, Vol.66 (3-4), p.191-207

2020

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Fetal heart rate reflects mutation burden and clinical outcome in twin probands with KCNQ1 mutations

HeartRhythm case reports, 2018-06, Vol.4 (6), p.237-240

2018

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The Brain-Heart Connection in Sympathetically Triggered Inherited Arrhythmia Syndromes

Heart, lung & circulation, 2020-04, Vol.29 (4), p.529-537

2020

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To Modify or Not to Modify: Allele-Specific Effects of 3'UTR- KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation

Journal of the American Heart Association, 2022-09, Vol.11 (18), p.e025981-e025981

2022

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Neuroscience in the heart: Recent advances in neurocardiac communication and its role in cardiac arrhythmias

The international journal of biochemistry & cell biology, 2020-05, Vol.122, p.105737-105737, Article 105737

2020

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Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons

American journal of physiology. Heart and circulatory physiology, 2021-07, Vol.321 (1), p.H217-H227

2021

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Molecular and cellular neurocardiology in heart disease

The Journal of physiology, 2024-05

2024

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetics in medicine, 2021-01, Vol.23 (1), p.47-58

2021

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Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry

Circulation. Heart failure, 2024-03, Vol.17 (3), p.e010970

2024

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Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome

Circulation. Arrhythmia and electrophysiology, 2015-08, Vol.8 (4), p.806-814

2015

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Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study

American journal of obstetrics and gynecology, 2020-03, Vol.222 (3), p.263.e1-263.e11

2020

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Origin of the Swedish long QT syndrome Y111C/ KCNQ1 founder mutation

Heart rhythm, 2011-04, Vol.8 (4), p.541-547

2011

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Cardiac response to water activities in children with Long QT syndrome type 1

PloS one, 2023-01, Vol.18 (12), p.e0295431

2023

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Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

BMC medical genetics, 2017-07, Vol.18 (1), p.74-74, Article 74

2017

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OC01.03: Incidence of stillbirth is increased in familial LQTS: a retrospective study from eight international centres

Effet fondateur et estimation de l’âge de la mutation fondatrice dans trois pays maghrébins : à propos de 66 patients atteints du syndrome d’Allgrove

Brugada Syndrome in New Zealand: The Experience of the National Cardiac Inherited Disease Group

The Cardiac Inherited Disease Group's Experience of Brugada Syndrome in New Zealand

Significance of the Carriage of Sarcomeric Mutations in Hypertrophic Cardiomyopathy in New Zealand

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Differential expression profile of microRNA in yak skeletal muscle and adipose tissue during development

Differential expression profile of microRNA in yak skeletal muscle and adipose tissue during development

Population‐based register study of children born in Sweden from 1997 to 2014 showed an increase in rickets during infancy

Functional coculture of sympathetic neurons and cardiomyocytes derived from human-induced pluripotent stem cells

Functional hyperactivity in long OT syndrome type 1 pluripotent stem cell-derived sympathetic neurons

LQTS founder population in Northern Sweden - the natural history of a potentially fatal inherited cardiac disorder

Fetal heart rate reflects mutation burden and clinical outcome in twin probands with KCNQ1 mutations

The Brain-Heart Connection in Sympathetically Triggered Inherited Arrhythmia Syndromes

To Modify or Not to Modify: Allele-Specific Effects of 3'UTR- KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation

Neuroscience in the heart: Recent advances in neurocardiac communication and its role in cardiac arrhythmias

Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons

Molecular and cellular neurocardiology in heart disease

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry

Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome

Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study

Origin of the Swedish long QT syndrome Y111C/ KCNQ1 founder mutation

Cardiac response to water activities in children with Long QT syndrome type 1

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

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