Next Generation Sequencing

  • High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
    Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco, Elia Grau Garces, Victor Moreno, Luis Ignacio Gonzalez-Granado, Pilar Guerra-García, Rosa Ayala, Benoît Florkin, Christian Kratz, Tim Ripperger, Thorsten Rosenbaum, Danuta Januszkiewicz-Lewandowska, Amedeo A Azizi, Iman Ragab, Michaela Nathrath, Hans-Jürgen Pander, Stephan Lobitz, Manon Suerink, Karin Dahan, Thomas Imschweiler, Ugur Demirsoy, Joan Brunet, Conxi Lázaro, Daniel Rueda, Katharina Wimmer, Gabriel Capellá, Marta Pineda
  • Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
    Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, Donatella Milani, Elisa Adele Colombo, Tommaso Mazza, Stefano Castellana, Maria Piccione, Silvia Maitz, Antonio Petracca, Paolo Prontera, Maria Accadia, Matteo Della Monica, Marilena Carmela Di Giacomo, Daniela Melis, Angelo Selicorni, Sabrina Giglio, Rita Fischetto, Elisabetta Di Fede, Natascia Malerba, Matteo Russo, Marco Castori, Cristina Gervasini, Giuseppe Merla
  • Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
    Laurène Ben Aim, Pascal Pigny, Luis Jaime Castro-Vega, Alexandre Buffet, Laurence Amar, Jérôme Bertherat, Delphine Drui, Isabelle Guilhem, Eric Baudin, Charlotte Lussey-Lepoutre, Carole Corsini, Gérard Chabrier, Claire Briet, Laurence Faivre, Catherine Cardot-Bauters, Judith Favier, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon
  • Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
    Robbert D A Weren, Rachel S van der Post, Ingrid P Vogelaar, J Han van Krieken, Liesbeth Spruijt, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Carla Oliveira, Eveline J Kamping, Hans K Schackert, Guglielmina N Ranzani, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
  • Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy
    Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
  • Genetic tests in lymphatic vascular malformations and lymphedema
    Sandro Michelini, Stefano Paolacci, Elena Manara, Costantino Eretta, Raul Mattassi, Byung-Boong Lee, Matteo Bertelli
  • Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations
    Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
  • Assessing genome-wide copy number variation in the Han Chinese population
    Jianqi Lu, Haiyi Lou, Ruiqing Fu, Dongsheng Lu, Feng Zhang, Zhendong Wu, Xi Zhang, Changhua Li, Baijun Fang, Fangfang Pu, Jingning Wei, Qian Wei, Chao Zhang, Xiaoji Wang, Yan Lu, Shi Yan, Yajun Yang, Li Jin, Shuhua Xu
  • Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay
    Hussein Daoud, Dong Zhang, Fiona McMurray, Andrea Yu, Stephanie M Luco, Jason Vanstone, Olga Jarinova, Nancy Carson, James Wickens, Shifali Shishodia, Hwanho Choi, Michael A McDonough, Christopher J Schofield, Mary-Ellen Harper, David A Dyment, Christine M Armour
  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
    R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, University of Washington Center for Mendelian Genomics, P Chance, M A Parisi, I A Glass, J Shendure, D Doherty

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