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Nicola Bedoni · SciRah

Researcher profile · Semantic Scholar

Nicola Bedoni

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Nicola Bedoni — researcher profile on SciRah

h-index: 10
Works: 19
Citations: 545

Most-cited papers

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
M. Quinodoz, V. Peter, Nicola Bedoni, Béryl Royer Bertrand +12 more
2021Nature Communications145 citations Open access
Semantic Scholar
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome
Silvio Alessandro Di Gioia, Nicola Bedoni, A. von Scheven-Gête, F. Vanoni +3 more
2015Scientific Reports87 citations Open access
Semantic Scholar
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
Samer Khateb, Björn Kowalewski, Nicola Bedoni, M. Damme +9 more
2018Genetics in Medicine60 citations Open access
Semantic Scholar
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
K. Nikopoulos, P. Farinelli, Basilio Giangreco, C. Tsika +23 more
2016American Journal of Human Genetics59 citations Open access
Semantic Scholar
acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegans
Lucien Rufener, Nicola Bedoni, R. Baur, S. Rey +5 more
2013PLoS Pathogens48 citations Open access
Semantic Scholar
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Nicola Bedoni, L. Haer-Wigman, V. Vaclavik, Viet H. Tran +27 more
2016Human Molecular Genetics41 citations Open access
Semantic Scholar
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
I. El Zaoui, M. Bucher, D. Rimoldi, M. Nicolas +10 more
2019Investigative Ophthalmology and Visual Science31 citations Open access
Semantic Scholar
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
A. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva +13 more
2019PLoS Genetics26 citations Open access
Semantic Scholar
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Nicola Bedoni, M. Quinodoz, M. Pinelli, G. Cappuccio +15 more
2020Human Molecular Genetics21 citations Open access
Semantic Scholar
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
Arash Salmaninejad, Nicola Bedoni, Z. Ravesh, M. Quinodoz +4 more
2020Scientific Reports15 citations Open access
Semantic Scholar
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
Atta ur Rehman, Neda Sepahi, Nicola Bedoni, Z. Ravesh +12 more
2021Scientific Reports9 citations Open access
Semantic Scholar
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
C. Redin, D. Pavlidou, Z. Bhuiyan, A. Porretta +10 more
2022European Journal of Medical Genetics3 citations Open access
Semantic Scholar
Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy
K. Nikopoulos, P. Farinelli, B. Royer-Bertrand, Nicola Bedoni +6 more
20161 citations
Semantic Scholar
Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases
Z. Ravesh, Arash Salmaninejad, Neda Sepahi, Atta ur Rehman +9 more
20200 citations
Semantic Scholar
Gene discovery in inherited retinal diseases using whole genome sequencing and autozygome based analysis
Nicola Bedoni
20190 citations
Semantic Scholar
Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.
Katarina Cisarova, Nicola Bedoni, R. Sánchez-Alcudia, B. Royer-Bertrand +7 more
20160 citations
Semantic Scholar
Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy.
Nicola Bedoni, K. Nikopoulos, P. Farinelli, B. Royer-Bertrand +6 more
20160 citations
Semantic Scholar
Whole-Exome Sequencing (WES) and Homozygosity mapping reveal a new frameshift insertion in the Knobloch Syndrome gene COL18A1.
Sara Balzano, Nicola Bedoni, F. Munier, C. Rivolta
20150 citations
Semantic Scholar
Recessive mutations in the polyglutamylase TTLL5, present in photoreceptor cells and spermatozoa, cause cone-rod degeneration and incompletely penetrant male infertility.
Nicola Bedoni, L. Haer-Wigman, Manir Ali, F. Cremers +3 more
20150 citations
Semantic Scholar

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