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View article: 240 WAY-102: an <i>in vivo</i> lentiviral dual-armored CLDN18.2 CAR T engineered for long-term durability & cytotoxicity in the tumor microenvironment
240 WAY-102: an <i>in vivo</i> lentiviral dual-armored CLDN18.2 CAR T engineered for long-term durability & cytotoxicity in the tumor microenvironment Open
View article: Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes Open
View article: Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Exome analysis links kidney malformations to developmental disorders and reveals causal genes Open
View article: Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders
Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders Open
Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios and 1,742 singleton KA cases and compared them to 22,258 controls. Diagn…
View article: 330 Pooled in vivo screens using spatial biology identify CAR T designs with superior performance in pancreatic cancer
330 Pooled in vivo screens using spatial biology identify CAR T designs with superior performance in pancreatic cancer Open
View article: Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS Open
Background : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles …
View article: Prevalence and significance of clonal hematopoiesis of indeterminate potential in lung transplant recipients
Prevalence and significance of clonal hematopoiesis of indeterminate potential in lung transplant recipients Open
View article: Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies<i>ANTXR2</i>as a candidate in PLS
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies<i>ANTXR2</i>as a candidate in PLS Open
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles wh…
View article: Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals Open
View article: Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes
Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes Open
Significance Statement APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence of modifiers of the APOL1 effect. We show that a diverse population of CKD patients wit…
View article: Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative Open
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants wi…
View article: Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis Open
Background Whole genome sequencing (WGS) can detect variants and estimate telomere length. The clinical utility of WGS in estimating risk, progression and survival of pulmonary fibrosis patients is unknown. Methods In this observational co…
View article: Genome-wide Enrichment of <i>TERT</i> Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry
Genome-wide Enrichment of <i>TERT</i> Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry Open
Genome-wide rare variant studies of IPF patients of non-European ancestry have been understudied. Here, we evaluate the enrichment of rare genetic variants of 241 unrelated non-European cases, representing individuals of Latino, African, S…
View article: Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative Open
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants wi…
View article: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open
View article: Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply.
Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply. Open
We appreciate the interest of Dr. Zhang and colleagues in our article (1,2).The main difference between our study and that by Zhang et al. ( 3) is that we assessed all rare predicted loss-of-function variants (pLOFs) meeting the same crite…
View article: Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals Open
View article: Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19 Open
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequ…
View article: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open
View article: ATAV: a comprehensive platform for population-scale genomic analyses
ATAV: a comprehensive platform for population-scale genomic analyses Open
View article: Increased yields of duplex sequencing data by a series of quality control tools
Increased yields of duplex sequencing data by a series of quality control tools Open
Duplex sequencing is currently the most reliable method to identify ultra-low frequency DNA variants by grouping sequence reads derived from the same DNA molecule into families with information on the forward and reverse strand. However, o…
View article: Increased yields of duplex sequencing data by a series of quality control tools
Increased yields of duplex sequencing data by a series of quality control tools Open
View article: Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 Open
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequ…
View article: Assessing the Role of Rare Genetic Variation in Patients With Heart Failure
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure Open
An increased burden of diagnostic mendelian cardiomyopathy variants in a broad group of patients with HF of mostly ischemic etiology compared with controls was observed. This work provides further evidence that mendelian genetic conditions…
View article: A broad exome study of the genetic architecture of asthma reveals novel patient subgroups
A broad exome study of the genetic architecture of asthma reveals novel patient subgroups Open
Introduction Asthma risk is a complex interplay between genetic susceptibility and environment. Despite many significantly-associated common variants, the contribution of rarer variants with potentially greater effect sizes has not been as…
View article: A catalog of associations between rare coding variants and COVID-19 outcomes
A catalog of associations between rare coding variants and COVID-19 outcomes Open
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven …
View article: Rare genetic causes of complex kidney and urological diseases
Rare genetic causes of complex kidney and urological diseases Open
View article: Causal Genetic Variants in Stillbirth
Causal Genetic Variants in Stillbirth Open
Our findings establish the diagnostic utility of clinical exome sequencing to evaluate the role of small genomic changes in stillbirth. The strength of the novel risk signal (as generated through the stratified analysis) was similar to tha…
View article: ATAV: a comprehensive platform for population-scale genomic analyses
ATAV: a comprehensive platform for population-scale genomic analyses Open
Background A common approach for sequencing studies is to do joint-calling and store variants of all samples in a single file. If new samples keep being added or controls are re-used for several studies, the cost and time required to perfo…
View article: Genetic Analysis of 1,977 Patients with Obstructive Lung Disease in the Novel Observational Longitudinal Study (NOVELTY)
Genetic Analysis of 1,977 Patients with Obstructive Lung Disease in the Novel Observational Longitudinal Study (NOVELTY) Open