Haematology (incl Blood transfusion)

  • Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
    Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, José Antonio Casado, Paula Rio, Christopher Bauser, Judith Reina-Castillón, Marcos Lopez-Sanchez, Lidia Gonzalez-Quereda, Pia Gallano, Albert Catalá, Ana Ruiz-Llobet, Isabel Badell, Cristina Diaz-Heredia, Raquel Hladun, Leonort Senent, Bienvenida Argiles, Juan Miguel Bergua Burgues, Fatima Bañez, Beatriz Arrizabalaga, Ricardo López Almaraz, Monica Lopez, Ángela Figuera, Antonio Molinés, Inmaculada Pérez de Soto, Inés Hernando, Juan Antonio Muñoz, Maria del Rosario Marin, Judith Balmaña, Neda Stjepanovic, Estela Carrasco, Isabel Cuesta, José Miguel Cosuelo, Alexandra Regueiro, José Moraleda Jimenez, Ana Maria Galera-Miñarro, Laura Rosiñol, Anna Carrió, Cristina Beléndez-Bieler, Antonio Escudero Soto, Elena Cela, Gregorio de la Mata, Rafael Fernández-Delgado, Maria Carmen Garcia-Pardos, Raquel Sáez-Villaverde, Marta Barragaño, Raquel Portugal, Francisco Lendinez, Ines Hernadez, José Manue Vagace, Maria Tapia, José Nieto, Marta Garcia, Macarena Gonzalez, Cristina Vicho, Eva Galvez, Alberto Valiente, Maria Luisa Antelo, Phil Ancliff, Francisco Garcia, Joaquin Dopazo, Julian Sevilla, Tobias Paprotka, Luis Alberto Pérez-Jurado, Juan Bueren, Jordi Surralles
  • Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
    Hirohito Shima, Katrin Koehler, Yumiko Nomura, Kazuhiko Sugimoto, Akira Satoh, Tsutomu Ogata, Maki Fukami, Ramona Jühlen, Markus Schuelke, Klaus Mohnike, Angela Huebner, Satoshi Narumi
  • Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
    Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni, Lesley Turner, Hongbing Li, Ameer Jarrar, Mathura Sabanayagam, Melanie Kirby, Mary Shago, Dalila Pinto, Jason N Berman, Stephen W Scherer, Anders Virtanen, Yigal Dror
  • Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
    Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, Robert Klaassen, Conrad V Fernandez, Rochelle A Yanofsky, John Wu, Yves Pastore, Mariana Silva, Jeff H Lipton, Josee Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky R Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, Peter Ray, Stephen Meyn, Michaela Cada, Yigal Dror
  • Juvenile myelomonocytic leukaemia and Noonan syndrome
    Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alain Verloes, Hélène Cavé
  • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
    Stefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M Birch, D Gareth Evans
  • Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study
    Tessel E Galesloot, Anneke J Geurts-Moespot, Martin den Heijer, Fred C G J Sweep, Robert E Fleming, Lambertus A L M Kiemeney, Sita H Vermeulen, Dorine W Swinkels