Publications related to Penetrance

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

A tool for mapping microglial morphology, morphOMICs, reveals brain-region and sex-dependent phenotypes

Kathryn Hess Bellwald, Lida Kanari, Martina Scolamiero

Environmental cues influence the highly dynamic morphology of microglia. Strategies to characterize these changes usually involve user-selected morphometric features, which preclude the identification of a spectrum of context-dependent morphological phenot ...

NATURE PORTFOLIO2022

ZNF445 is a primary regulator of genomic imprinting

Didier Trono, Priscilla Turelli, Christian Axel Wandall Thorball, Sandra Eloise Kjeldsen, Evaristo Jose Planet Letschert, Michaël Imbeault, Andrea Coluccio

Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression. Zinc finger protein 57 (ZFP57) is critical for maintenance of this epigenetic memory during post-fertil ...

2019

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Alessandro Borghesi

Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient's exome with public databases to remove rep ...

National Academy of Sciences2019

The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform

Johan Auwerx, Martinus Gijs, Matteo Cornaglia, Hüseyin Baris Atakan

Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

Nature Research2019

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Identifying mutations in Tunisian families with retinal dystrophy

Imen Habibi

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Research2016

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi, Paul Jack Mc Laren

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...

Public Library Science2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

Phenotypic heterogeneity in metabolic traits among single cells of a rare bacterial species in its natural environment quantified with a combination of flow cell sorting and NanoSIMS

Anders Meibom, Stéphane Laurent Escrig, Martin Ackermann

Populations of genetically identical microorganisms residing in the same environment can display marked variability in their phenotypic traits; this phenomenon is termed phenotypic heterogeneity. The relevance of such heterogeneity in natural habitats is u ...

Frontiers Media SA2015

Epigenetic Alterations in Alzheimer's Disease

Johannes Gräff, Jose Vicente Sanchez Mut

Alzheimer's disease (AD) is the major cause of dementia in Western societies. It progresses asymptomatically during decades before being belatedly diagnosed when therapeutic strategies have become unviable. Although several genetic alterations have been as ...

Frontiers Research Foundation2015

Effects of ploidy and sex-locus genotype on gene expression patterns in the fire ant Solenopsis invicta

Chitsanu Khurewathanakul, Oksana Riba Grognuz, Laurent Keller

Males in many animal species differ greatly from females in morphology, physiology and behaviour. Ants, bees and wasps have a haplodiploid mechanism of sex determination whereby unfertilized eggs become males while fertilized eggs become females. However, ...

Royal Soc2014

GuavaH: a compendium of host genomic data in HIV biology and disease

Jacques Fellay, Amalio Telenti, Istvan Bartha, Paul Jack Mc Laren

Background: There is an ever-increasing volume of data on host genes that are modulated during HIV infection, influence disease susceptibility or carry genetic variants that impact HIV infection. We created GuavaH (Genomic Utility for Association and Viral ...

BioMed Central2014

NCoR1 Is a Conserved Physiological Modulator of Muscle Mass and Oxidative Function

Johan Auwerx, Kristina Schoonjans, Carlos Canto Alvarez, Laurent Mouchiroud, Hiroyasu Yamamoto, Evan Graehl Williams

Transcriptional coregulators control the activity of many transcription factors and are thought to have wide-ranging effects on gene expression patterns. We show here that muscle-specific loss of nuclear receptor corepressor 1 (NCoR1) in mice leads to enha ...

2011

Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis

Purpose: To study phenotype-genotype correlation in patients who have retinoma, which is a benign tumor resembling the post irradiation regression pattern of retinoblastoma (RB). ...

2009