Athanasios Kousathanas
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View article: The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have …
View article: Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing
Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing Open
BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODSUsing whol…
View article: Common and rare variant analyses reveal novel genetic factors underlying Idiopathic Pulmonary Fibrosis and shared aetiology with COVID-19
Common and rare variant analyses reveal novel genetic factors underlying Idiopathic Pulmonary Fibrosis and shared aetiology with COVID-19 Open
Idiopathic pulmonary fibrosis (IPF) is a progressive and debilitating respiratory disease with limited therapeutic options. We carried out genome-wide association (GWAS), post-GWAS and rare variant analyses utilising the whole genome seque…
View article: Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing Open
Introduction Cystic kidney disease (CyKD) is frequently a familial disease, with ~85% of probands receiving a monogenic diagnosis. However, gene discovery has been led by family-based and candidate gene studies, limiting the ascertainment …
View article: A second update on mapping the human genetic architecture of COVID-19
A second update on mapping the human genetic architecture of COVID-19 Open
Matters Arising From: COVID-19 Host Genetics Initiative. Nature https://doi.org/10.1038/s41586-021-03767-x (2021)
View article: A novel likely pathogenic CLCN5 variant in Dent’s disease
A novel likely pathogenic CLCN5 variant in Dent’s disease Open
Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting in proximal tubular dysfunction. We present three members of the …
View article: Age and Sex Differences in the Genetics of Cardiomyopathy
Age and Sex Differences in the Genetics of Cardiomyopathy Open
Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding var…
View article: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 Open
Correction to: Nature Published online 17 May 2023 In the version of this article initially published, the name of Ana Margarita Baldión-Elorza, of the SCOURGE Consortium, appeared incorrectly (as Ana María Baldion) and has now been amende…
View article: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders Open
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifie…
View article: Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Open
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlyin…
View article: A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project) Open
Autosomal recessive whole gene deletions of nephrocystin-1 ( NPHP1 ) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (S…
View article: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 Open
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2 . Despite the advanced stage of illness at presentation,…
View article: The genomic landscape of familial glioma
The genomic landscape of familial glioma Open
Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohor…
View article: Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition Open
Dravet syndrome is an archetypal rare severe epilepsy, considered ‘monogenic’, typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by dif…
View article: Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population Open
CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extra-neurological symptoms. The disease has a rep…
View article: Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population
Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population Open
Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia …
View article: Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features Open
The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as …
View article: Mendelian gene identification through mouse embryo viability screening
Mendelian gene identification through mouse embryo viability screening Open
Background The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is…