Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

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Publications associées (28)

Development of a new visual prosthesis for preclinical studies on artificial vision

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The technological evolution in materials science and microengineering favored the production of advanced visual prostheses useful for fighting blindness and to improve patients quality of life. Visual prostheses aim at replacing lost visual functions by ar ...

EPFL2020

High-throughput DNA barcoding of oligochaetes for abundance-based indices to assess the biological quality of sediments in streams and lakes

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Aquatic oligochaete communities are valuable indicators of the biological quality of sediments in streams and lakes, but identification of specimens to the species level based on morphological features requires solid expertise in taxonomy and is possible o ...

Nature Research2020

A Global-Local Approach For Detecting Hotspots In Multiple-Response Regression

Anthony Christopher Davison, Hélène Ruffieux, Jörg Hager

We tackle modelling and inference for variable selection in regression problems with many predictors and many responses. We focus on detecting hotspots, that is, predictors associated with several responses. Such a task is critical in statistical genetics, ...

INST MATHEMATICAL STATISTICS2020

Naturalistic spatiotemporal modulation of epiretinal stimulation increases the response persistence of retinal ganglion cell

Naïg Aurelia Ludmilla Chenais, Marta Jole Ildelfonsa Airaghi Leccardi, Diego Ghezzi

Objective. Retinal stimulation in blind patients evokes the sensation of discrete points of light called phosphenes, which allows them to perform visually guided tasks, such as orientation, navigation, object recognition, object manipulation and reading. H ...

2021

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

Large-scale variational inference for Bayesian joint regression modelling of high-dimensional genetic data

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Genetic association studies have become increasingly important in understanding the molecular bases of complex human traits. The specific analysis of intermediate molecular traits, via quantitative trait locus (QTL) studies, has recently received much atte ...

EPFL2019

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

Naïg Aurelia Ludmilla Chenais, Diego Ghezzi, Paola Vagni, Tommaso Marchetti

Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favorable anatomical and immunological characteristics of the eye, gene therapy holds great potential for thei ...

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Diet modulates cecum bacterial diversity and physiological phenotypes across the BXD mouse genetic reference population

Johan Auwerx, Evan Graehl Williams

The BXD family has become one of the preeminent genetic reference populations to understand the genetic and environmental control of phenotypic variation. Here we evaluate the responses to different levels of fat in the diet using both chow diet (CD, 13-18 ...

2019

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