Concepedia
Statistics
Publications
12
Citations
575
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, medicine, and molecular genetics.
Top concepts
GeneticsMedicinePathologyMolecular GeneticsBiologyGenomicsPublic HealthSequencingGene ExpressionMale Infertility
Publications per year
2013–2024
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 · 159 citations · Full text
Genetics, Genetic Epidemiology, Pathology +23
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 · 88 citations · Full text
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 · 70 citations · Full text
Mendelian Disorder, Enzymatic Activity, Genetic Disorder +7
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 · 57 citations · Full text
Primary-cilia Defects, Genetic Disorder, Genetics +5
acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegans
Lucien Rufener, Nicola Bedoni, Roland Baur et al. · PLoS Pathogens · 2013 · 50 citations · Full text
Xenopus Laevis Oocytes, Genetics, Amino-acetonitrile Derivatives +17
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