Items where Author is "Superti-Furga, Andrea"
Number of items: 22. 2022Quinodoz, Mathieu and Peter, Virginie G. and Cisarova, Katarina and Royer-Bertrand, Beryl and Stenson, Peter D. and Cooper, David N. and Unger, Sheila and Superti-Furga, Andrea and Rivolta, Carlo. (2022) Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. American Journal of Human Genetics (AJHG), 109 (3). pp. 457-470. 2021Lebon, Sébastien and Quinodoz, Mathieu and Peter, Virginie G. and Gengler, Carole and Blanchard, Gaëlle and Cina, Viviane and Campos-Xavier, Belinda and Rivolta, Carlo and Superti-Furga, Andrea. (2021) Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes, 12 (9). p. 1397. 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. Allou, Lila and Balzano, Sara and Magg, Andreas and Quinodoz, Mathieu and Royer-Bertrand, Beryl and Schöpflin, Robert and Chan, Wing-Lee and Speck-Martins, Carlos E. and Carvalho, Daniel Rocha and Farage, Luciano and Lourenço, Charles Marques and Albuquerque, Regina and Rajagopal, Srilakshmi and Nampoothiri, Sheela and Campos-Xavier, Belinda and Chiesa, Carole and Niel-Bütschi, Florence and Wittler, Lars and Timmermann, Bernd and Spielmann, Malte and Robson, Michael I. and Ringel, Alessa and Heinrich, Verena and Cova, Giulia and Andrey, Guillaume and Prada-Medina, Cesar A. and Pescini-Gobert, Rosanna and Unger, Sheila and Bonafé, Luisa and Grote, Phillip and Rivolta, Carlo and Mundlos, Stefan and Superti-Furga, Andrea. (2021) Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592. pp. 93-98. 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. 2020Bedoni, 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. Bastos, Filipa and Quinodoz, Mathieu and Addor, Marie-Claude and Royer-Bertrand, Beryl and Fodstad, Heidi and Rivolta, Carlo and Poloni, Claudia and Superti-Furga, Andrea and Roulet-Perez, Eliane and Lebon, Sebastien. (2020) Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC neurology, 20 (1). p. 17. 2019Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo. (2019) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic Genetics, 40 (2). pp. 177-181. Rehman, Atta Ur and Peter, Virginie G. and Quinodoz, Mathieu and Rashid, Abdur and Khan, Syed Akhtar and Superti-Furga, Andrea and Rivolta, Carlo. (2019) Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. Genes, 11 (1). p. 13. Royer-Bertrand, Béryl and Tsouni, Pinelopi and Mullen, Patrick and Campos Xavier, Belinda and Mittaz Crettol, Lauréane and Lobrinus, Alexander J. and Ghika, Joseph and Baumgartner, Matthias R. and Rivolta, Carlo and Superti-Furga, Andrea and Kuntzer, Thierry and Francklyn, Christopher and Tran, Christel. (2019) Peripheral neuropathy and cognitive impairment associated with a novel monoallelic; HARS; variant. Annals of clinical and translational neurology, 6 (6). pp. 1072-1080. Peter, Virginie G. and Quinodoz, Mathieu and Pinto-Basto, Jorge and Sousa, Sergio B. and Di Gioia, Silvio Alessandro and Soares, Gabriela and Ferraz Leal, Gabriela and Silva, Eduardo D. and Pescini Gobert, Rosanna and Miyake, Noriko and Matsumoto, Naomichi and Engle, Elizabeth C. and Unger, Sheila and Shapiro, Frederic and Superti-Furga, Andrea and Rivolta, Carlo and Campos-Xavier, Belinda. (2019) The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genetics in medicine, 21 (12). pp. 2734-2743. 2017Quinodoz, Mathieu and Royer-Bertrand, Beryl and Cisarova, Katarina and Di Gioia, Silvio Alessandro and Superti-Furga, Andrea and Rivolta, Carlo. (2017) DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. American Journal of Human Genetics, 101 (4). pp. 623-629. Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M. and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J. and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E. and Martini, Alberto and Manis, John and Linhardt, Robert J. and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M. and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D.. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. Journal of Experimental Medicine, 214 (3). pp. 623-637. 2016Bonafé, Luisa and Kariminejad, Ariana and Li, Jia and Royer-Bertrand, Beryl and Garcia, Virginie and Mahdavi, Shokouholsadat and Bozorgmehr, Bita and Lachman, Ralph L. and Mittaz-Crettol, Lauréane and Campos-Xavier, Belinda and Nampoothiri, Sheela and Unger, Sheila and Rivolta, Carlo and Levade, Thierry and Superti-Furga, Andrea. (2016) Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. Arthritis & rheumatology, 68 (9). pp. 2323-2327. Kiper, Pelin O. Simsek and Saito, Hiroaki and Gori, Francesca and Unger, Sheila and Hesse, Eric and Yamana, Kei and Kiviranta, Riku and Solban, Nicolas and Liu, Jeff and Brommage, Robert and Boduroglu, Koray and Bonafé, Luisa and Campos-Xavier, Belinda and Dikoglu, Esra and Eastell, Richard and Gossiel, Fatma and Harshman, Keith and Nishimura, Gen and Girisha, Katta M. and Stevenson, Brian J. and Takita, Hiroyuki and Rivolta, Carlo and Superti-Furga, Andrea and Baron, Roland. (2016) Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. The New England Journal of Medicine, 374 (26). pp. 2553-2562. van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784. 2015Di 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. Royer-Bertrand, Beryl and Castillo-Taucher, Silvia and Moreno-Salinas, Rodrigo and Cho, Tae-Joon and Chae, Jong-Hee and Choi, Murim and Kim, Ok-Hwa and Dikoglu, Esra and Campos-Xavier, Belinda and Girardi, Enrico and Superti-Furga, Giulio and Bonafé, Luisa and Rivolta, Carlo and Unger, Sheila and Superti-Furga, Andrea. (2015) Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5. p. 17154. Segarra, Nuria Garcia and Ballhausen, Diana and Crawford, Heather and Perreau, Matthieu and Campos-Xavier, Belinda and van Spaendonck-Zwarts, Karin and Vermeer, Cees and Russo, Michel and Zambelli, Pierre-Yves and Stevenson, Brian and Royer-Bertrand, Beryl and Rivolta, Carlo and Candotti, Fabio and Unger, Sheila and Munier, Francis L. and Superti-Furga, Andrea and Bonafé, Luisa. (2015) NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. American journal of medical genetics. Part A, 167A (12). pp. 2902-2912. 2011Grünert, Sarah Catharina and Fowler, Brian and Superti-Furga, Andrea and Sass, Jörn Oliver and Schwab, Karl Otfried. (2011) Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain & development, Vol. 33, H. 5. pp. 432-436. 2010Hinrichs, Timo and Superti-Furga, Andrea and Scheiderer, Wolf-Dieter and Bonafé, Luisa and Brenner, Rolf E. and Mattes, Thomas. (2010) Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene -phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. BMC Musculoskeletal Disorders, 11. p. 110. November 2008Fukada, Toshiyuki and Civic, Natacha and Furuichi, Tatsuya and Shimoda, Shinji and Mishima, Kenji and Higashiyama, Hiroyuki and Idaira, Yayoi and Asada, Yoshinobu and Kitamura, Hiroshi and Yamasaki, Satoru and Hojyo, Shintaro and Nakayama, Manabu and Ohara, Osamu and Koseki, Haruhiko and Dos Santos, Heloisa G. and Bonafe, Luisa and Ha-Vinh, Russia and Zankl, Andreas and Unger, Sheila and Kraenzlin, Marius E. and Beckmann, Jacques S. and Saito, Ichiro and Rivolta, Carlo and Ikegawa, Shiro and Superti-Furga, Andrea and Hirano, Toshio. (2008) The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PloS one, 3 (11). e3642. |
