Alessandra Renieri

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

Limited overlap between genetic effects on disease susceptibility and disease survival

The paper compares genetic effects on disease susceptibility and progression, finding limited overlap and suggesting larger samples or different progression measures are needed.

Validation of the NovaSeq6000 Platform and automated library preparation for CE-IVD equivalence

The paper validates the NovaSeq6000 RUO platform with automated library preparation for clinical-grade whole-exome sequencing, showing equivalence to the CE-IVD certified system.

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

This paper improves a genetic score for predicting COVID-19 severity by incorporating organ-specific weights derived from Boolean quantum features and genetic algorithms.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity

This study combines common and rare variant analyses with single-cell multiomics to identify cell-type-specific genetic risk factors for severe COVID-19, revealing molecular mechanisms and potential therapeutic targets.

The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.

The paper shows that the L412F polymorphism in TLR3 is associated with severe COVID-19 in males by inhibiting autophagy and reducing TNF production.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

SELP Asp603Asn and severe thrombosis in COVID-19 males: implication for anti P-selectin monoclonal antibodies treatment

The paper identifies a genetic variant in the SELP gene associated with increased thrombosis risk in male COVID-19 patients, suggesting potential for anti-P-selectin antibody therapy.

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.

The paper identifies shorter androgen receptor polyQ alleles as protective against severe COVID-19 in males using machine learning on whole-exome sequencing data from the GEN-COVID cohort.

Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical Data for Advancing COVID-19 Research

The paper describes a biobanking initiative collecting genetic and clinical data from over 1,000 SARS-CoV-2-positive individuals to study multi-organ involvement and genetic factors in COVID-19 severity.

Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

Post-Mendelian genetic model in COVID-19

The paper proposes a post-Mendelian genetic model integrating common and rare variants to predict severe vs. mild COVID-19 outcomes in an Italian cohort.

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males

The paper identifies rare TLR7 variants associated with severe COVID-19 in young males, suggesting a genetic basis for disease susceptibility.

Clinical and molecular characterization of COVID-19 hospitalized patients

The paper reports Whole Exome Sequencing analysis of 35 hospitalized COVID-19 patients, identifying pathogenic mutations linked to virus infection susceptibility and disease progression.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.