Jeanne L. Theis
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View article: First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s
First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s Open
View article: Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome
Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome Open
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD). The pathogenesis of HLHS is poorly understood, and due to the likely oligogenic complexity of the disease, definitive HLHS-causing genes have not yet…
View article: Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome
Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome Open
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD). The pathogenesis of HLHS is poorly understood, and due to the likely oligogenic complexity of the disease, definitive HLHS-causing genes have not yet…
View article: Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways
Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways Open
Rare familial spontaneous coronary artery dissection (SCAD) kindreds implicate genetic disease predisposition and provide a unique opportunity for candidate gene discovery. Whole-genome sequencing was performed in fifteen probands with non…
View article: Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity Open
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole…
View article: Author response: Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Author response: Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity Open
Full text Figures and data Side by side Abstract Editor's evaluation Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Hypopla…
View article: P570: Getting it right on the first test: Machine learning plus genome-wide methylation profiling resolves equivocal cases of Beckwith-Wiedemann syndrome
P570: Getting it right on the first test: Machine learning plus genome-wide methylation profiling resolves equivocal cases of Beckwith-Wiedemann syndrome Open
View article: Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome
Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome Open
Background: Deciphering hypoplastic left heart syndrome (HLHS) pathogenesis is confounded by its genetic heterogeneity and oligogenic underpinnings. Methods: Whole genome sequences were analyzed by 3 independent strategies to identify HLHS…
View article: Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome
Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome Open
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD). The pathogenesis of HLHS is poorly understood, and due to the likely oligogenic complexity of the disease, definitive HLHS-causing genes have not yet…
View article: Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity Open
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We therefore perfo…
View article: Whole Genome Sequencing in Hypoplastic Left Heart Syndrome
Whole Genome Sequencing in Hypoplastic Left Heart Syndrome Open
Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants and small insertions/deletions, within both coding and regulatory regions of the…
View article: <i>CELSR1</i> Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome
<i>CELSR1</i> Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome Open
Background: Whole-genome sequencing in families enables deciphering of congenital heart disease causes. A shared genetic basis for familial bicuspid aortic valve (BAV) and hypoplastic left heart syndrome (HLHS) was postulated. Methods: Who…
View article: Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome Open
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based…
View article: Author response: Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Author response: Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome Open
Article Figures and data Abstract Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Congenital heart diseases (CHDs), includin…
View article: Patient-specific functional genomics and disease modeling suggest a role for LRP2 in hypoplastic left heart syndrome
Patient-specific functional genomics and disease modeling suggest a role for LRP2 in hypoplastic left heart syndrome Open
Congenital heart diseases (CHD), such as hypoplastic left heart syndrome (HLHS), are considered to have complex genetic underpinnings that are poorly understood. Here, an integrated multi-disciplinary approach was applied to identify novel…
View article: Model system identification of novel congenital heart disease gene candidates: focus on RPL13
Model system identification of novel congenital heart disease gene candidates: focus on RPL13 Open
Genetics is a significant factor contributing to congenital heart disease (CHD), but our understanding of the genetic players and networks involved in CHD pathogenesis is limited. Here, we searched for de novo copy number variations (CNVs)…
View article: Rare Missense Variants in <i>TLN1</i> Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection
Rare Missense Variants in <i>TLN1</i> Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection Open
Background: Spontaneous coronary artery dissection (SCAD) is an uncommon idiopathic disorder predominantly affecting young, otherwise healthy women. Rare familial cases reveal a genetic predisposition to disease. The aim of this study was …
View article: Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy Open
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole …
View article: Recessive <i>MYH6</i> Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction
Recessive <i>MYH6</i> Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction Open
Background— The molecular underpinnings of hypoplastic left heart are poorly understood. Staged surgical palliation has dramatically improved survival, yet eventual failure of the systemic right ventricle necessitates cardiac transplantati…