Nicola Bedoni

Université de Lausanne - Lausanne / Switzerland

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AD Scientific Index ID: 6012809

Universität Lausanne

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Nicola Bedoni's MOST POPULAR ARTICLES

1-) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataM Quinodoz, VG Peter, N Bedoni, B Royer Bertrand, K Cisarova, ...Nature communications 12 (1), 518, 20211042021

2-) Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndromeSAD Gioia, N Bedoni, A von Scheven-Gête, F Vanoni, A Superti-Furga, ...Scientific reports 5 (1), 10200, 20151012015

3-) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansS Khateb, B Kowalewski, N Bedoni, M Damme, N Pollack, A Saada, ...Genetics in medicine 20 (9), 1004-1012, 2018632018

4-) acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegansL Rufener, N Bedoni, R Baur, S Rey, DA Glauser, J Bouvier, R Beech, ...PLoS pathogens 9 (8), e1003524, 2013572013

5-) Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defectsK Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, ...The American Journal of Human Genetics 99 (3), 770-776, 2016552016

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