List of works - Barbara McDonough

Truncations of titin causing dilated cardiomyopathy.

scientific article

Shared genetic causes of cardiac hypertrophy in children and adults

scientific article

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

scientific article published on 25 June 2002

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

scientific article

Cells of the adult human heart

scientific article published on 24 September 2020

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

scientific article published on 4 September 2012

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

scientific article published on 8 April 2010

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

scientific article published on 10 February 2014

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

scientific article (publication date: 30 September 2014)

UBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration

scientific article published on May 9, 2014

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

scientific article published in October 2017

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

scientific article published on 01 January 2019

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

scientific article

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

scientific article

Cells and gene expression programs in the adult human heart

scientific article published on 05 April 2020

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

scientific article

Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q

scientific article published on 08 December 2008

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

scientific article published on 9 May 2006

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

scientific article published on 15 November 2016

ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

article

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

article

Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy

scientific article published on 15 November 2020

Discordant clinical features of identical hypertrophic cardiomyopathy twins

scientific article published on 3 March 2021

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

scientific article published on 04 September 2020

Identification of aSEDLgene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Cardiac Myosin Binding Protein-C Autoantibodies are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome

scientific article

List of works by Barbara McDonough

Truncations of titin causing dilated cardiomyopathy.

Shared genetic causes of cardiac hypertrophy in children and adults

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

Cells of the adult human heart

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

UBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

Cells and gene expression programs in the adult human heart

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy

Discordant clinical features of identical hypertrophic cardiomyopathy twins

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Identification of aSEDLgene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia

Cardiac Myosin Binding Protein-C Autoantibodies are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome