Peter J. Gruber
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View article: Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery Open
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial in…
View article: Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes Open
Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 ge…
View article: Recessive genetic contribution to congenital heart disease in 5,424 probands
Recessive genetic contribution to congenital heart disease in 5,424 probands Open
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the rec…
View article: Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population Open
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in neonates. While there is compelling evidence of genetic contribution to the etiology of TOF, the contribution of noncoding variants to the development of the defect rema…
View article: Robotic Congenital Cardiac Surgery Practice Worldwide: A Systematic Review
Robotic Congenital Cardiac Surgery Practice Worldwide: A Systematic Review Open
Background: With the increasing adoption of robotic technology in adult cardiac surgery patients, improved surgeon experience and wider utilization have been reported. However, interpreting trends in robotic congenital surgery is more chal…
View article: i-WASP—Intelligent and Wireless Technologies for Automatically Generated Shift Protocols in Conventional Tunnelling
i-WASP—Intelligent and Wireless Technologies for Automatically Generated Shift Protocols in Conventional Tunnelling Open
The research project i‑WASP, a collaboration of specialized German and Austrian companies and research institutions, looks at the question of how complex processes on a conventional tunneling construction site can be automatically recorded…
View article: Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery
Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery Open
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we used artificial i…
View article: Development of the Heart and Great Vessels
Development of the Heart and Great Vessels Open
Major advances in molecular genetics, establishment of appropriate animal models, and improvements in analytical techniques have contributed to a greater understanding of cardiac development. All cells destined to become part of the heart …
View article: Genetics of Congenital Heart Disease
Genetics of Congenital Heart Disease Open
This chapter provides some insight into known congenital heart disease (CHD) inheritance patterns and recurrence risk and reviews the newest findings regarding the genetic basis of CHD. It provides a conceptual framework for the relationsh…
View article: Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors Open
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet the underlying genetic mechanisms remain poorly understood. Here, we performed whole-genome sequencing analysis on 146 nonsyndromic TOF parent-offspring trios of Chine…
View article: Robotic mitral valve repair in a patient with cardiac dextroversion
Robotic mitral valve repair in a patient with cardiac dextroversion Open
Central MessageMitral regurgitation and left ventricular outflow tract obstruction can be effectively approached and treated with complex robotic mitral valve repair in a patient with cardiac dextroversion.See Commentaries on pages 17 and …
View article: Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome Open
Background: Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left heart syndrome (HLHS) is the most common and severe manifestation within the spectrum of left ventricular outflow tract obstr…
View article: Amnion signals are essential for mesoderm formation in primates
Amnion signals are essential for mesoderm formation in primates Open
Embryonic development is largely conserved among mammals. However, certain genes show divergent functions. By generating a transcriptional atlas containing >30,000 cells from post-implantation non-human primate embryos, we uncover that ISL…
View article: Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndrome
Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndrome Open
Background Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left heart syndrome (HLHS) is the most common and severe manifestation within the spectrum of left ventricular outflow tract obstru…
View article: Variants of the Aortic Arch in Adult General Population and their Association with Thoracic Aortic Aneurysm Disease
Variants of the Aortic Arch in Adult General Population and their Association with Thoracic Aortic Aneurysm Disease Open
Background. Query a single institution computed tomography (CT) database to assess the prevalence of aortic arch anomalies in general adult population and their potential association with thoracic aortopathies. Methods. CT chest scan repor…
View article: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome Open
Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associat…
View article: Amnion signals are essential for mesoderm formation in primates
Amnion signals are essential for mesoderm formation in primates Open
Essential genes for murine embryonic development can demonstrate a disparate phenotype in human cohorts. By generating a transcriptional atlas containing >30,000 cells from postimplantation non-human primate embryos, we discovered that ISL…
View article: SMAD4 Is Essential for Human Cardiac Mesodermal Precursor Cell Formation
SMAD4 Is Essential for Human Cardiac Mesodermal Precursor Cell Formation Open
Understanding stage-specific molecular mechanisms of human cardiomyocyte (CM) progenitor formation and subsequent differentiation are critical to identify pathways that might lead to congenital cardiovascular defects and malformations. In …
View article: Investigating capillary electrophoresis‐mass spectrometry for the analysis of common post‐translational modifications
Investigating capillary electrophoresis‐mass spectrometry for the analysis of common post‐translational modifications Open
Capillary electrophoresis coupled to mass spectrometry is a very efficient analytical method for the analysis of post‐translational modifications because of its high separation efficiency and high detection sensitivity. Here we applied CE‐…