Lista de obras -

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

scientific article published on 10 February 2014

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

artículo científico publicado en 2017

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

article

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy

artículo científico publicado en 2020

Cells and gene expression programs in the adult human heart

artículo científico publicado en 2020

Cells of the adult human heart

scientific article published on 24 September 2020

Discordant clinical features of identical hypertrophic cardiomyopathy twins

artículo científico publicado en 2021

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

scientific article published on 08 December 2008

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

artículo científico publicado en 2013

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

scientific article published on 01 January 2019

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

artículo científico publicado en 2006

Shared genetic causes of cardiac hypertrophy in children and adults

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

article

Truncations of titin causing dilated cardiomyopathy.

artículo científico publicado en 2012

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration

artículo científico publicado en 2014

Lista de obras de

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

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

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

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

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

Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy

Cells and gene expression programs in the adult human heart

Cells of the adult human heart

Discordant clinical features of identical hypertrophic cardiomyopathy twins

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

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

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

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

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

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

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

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

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

Shared genetic causes of cardiac hypertrophy in children and adults

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

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

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

Truncations of titin causing dilated cardiomyopathy.

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration