Concepedia

Nicola Bedoni

NB

Statistics

Publications

12

Citations

597

H-Index

11

Active since

2013

Affiliations

University of Lausanne(Current)

University of Leicester

Institute of Molecular and Clinical Ophthalmology Basel

University of Basel

Mashhad University of Medical Sciences

Nicola Bedoni is an author at University of Lausanne specializing in genetics, molecular genetics, and genetic disorders.

Publications per year

2013–2024

12

Publications

12

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni et al. · Nature Communications · 2021 · 168 citations · Full text

, , +17

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome

Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête et al. · Scientific Reports · 2015 · 89 citations · Full text

, , +16

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

Samer Khateb, Björn Kowalewski, Nicola Bedoni et al. · Genetics in Medicine · 2018 · 73 citations · Full text

, , +10

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco et al. · The American Journal of Human Genetics · 2016 · 60 citations · Full text

, , +8

acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegans

Lucien Rufener, Nicola Bedoni, Roland Baur et al. · PLoS Pathogens · 2013 · 53 citations · Full text

, , +12

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