Items where Author is "Bedoni, Nicola"

2021

Quinodoz, Mathieu and Peter, Virginie G. and Bedoni, Nicola and Royer Bertrand, Béryl and Cisarova, Katarina and Salmaninejad, Arash and Sepahi, Neda and Rodrigues, Raquel and Piran, Mehran and Mojarrad, Majid and Pasdar, Alireza and Ghanbari Asad, Ali and Sousa, Ana Berta and Coutinho Santos, Luisa and Superti-Furga, Andrea and Rivolta, Carlo. (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature Communications, 12 (1). p. 518.

Rehman, Atta Ur and Sepahi, Neda and Bedoni, Nicola and Ravesh, Zeinab and Salmaninejad, Arash and Cancellieri, Francesca and Peter, Virginie G. and Quinodoz, Mathieu and Mojarrad, Majid and Pasdar, Alireza and Asad, Ali Ghanbari and Ghalamkari, Saman and Piran, Mehran and Piran, Mehrdad and Superti-Furga, Andrea and Rivolta, Carlo. (2021) Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Scientific Reports, 11 (1). p. 19332.

2020

Bedoni, Nicola and Quinodoz, Mathieu and Pinelli, Michele and Cappuccio, Gerarda and Torella, Annalaura and Nigro, Vincenzo and Testa, Francesco and Simonelli, Francesca and Telethon Undiagnosed Disease Programm, and Corton, Marta and Lualdi, Susanna and Lanza, Federica and Morana, Giovanni and Ayuso, Carmen and Di Rocco, Maja and Filocamo, Mirella and Banfi, Sandro and Brunetti-Pierri, Nicola and Superti-Furga, Andrea and Rivolta, Carlo. (2020) An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Human molecular genetics, 29 (13). pp. 2250-2260.

Salmaninejad, Arash and Bedoni, Nicola and Ravesh, Zeinab and Quinodoz, Mathieu and Shoeibi, Nasser and Mojarrad, Majid and Pasdar, Alireza and Rivolta, Carlo. (2020) Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies. Scientific reports, 10 (1). p. 19413.

2019

El Zaoui, Ikram and Bucher, Maya and Rimoldi, Donata and Nicolas, Michael and Kaya, Gurkan and Pescini Gobert, Rosanna and Bedoni, Nicola and Schalenbourg, Ann and Sakina, Ezziat and Zografos, Leonidas and Leyvraz, Serge and Riggi, Nicolo and Rivolta, Carlo and Moulin, Alexandre P.. (2019) Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition. Investigative Ophthalmology & Visual Science, 60 (7). pp. 2764-2772.

Moye, Abigail R. and Bedoni, Nicola and Cunningham, Jessica G. and Sanzhaeva, Urikhan and Tucker, Eric S. and Mathers, Peter and Peter, Virginie G. and Quinodoz, Mathieu and Paris, Liliana P. and Coutinho-Santos, Luísa and Camacho, Pedro and Purcell, Madeleine G. and Winkelmann, Abbie C. and Foster, James A. and Pugacheva, Elena N. and Rivolta, Carlo and Ramamurthy, Visvanathan. (2019) Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genetics, 15 (8). e1008315.

2018

Khateb, Samer and Kowalewski, Björn and Bedoni, Nicola and Damme, Markus and Pollack, Netta and Saada, Ann and Obolensky, Alexey and Ben-Yosef, Tamar and Gross, Menachem and Dierks, Thomas and Banin, Eyal and Rivolta, Carlo and Sharon, Dror. (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genetics in medicine, 20 (9). pp. 1004-1012.

2016

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.

2015

Di Gioia, Silvio Alessandro and Bedoni, Nicola and von Scheven-Gête, Annette and Vanoni, Federica and Superti-Furga, Andrea and Hofer, Michaël and Rivolta, Carlo. (2015) Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Scientific Reports, 5. p. 10200.