Clinical genetics

  • 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
  • Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
    Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull
  • Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
    Claudia Rodríguez-López, Luis M. García-Cárdaba, Alberto Blázquez, Pablo Serrano-Lorenzo, Gerardo Gutiérrez-Gutiérrez, Beatriz San Millán-Tejado, Nuria Muelas, Aurelio Hernández-Laín, Juan J. Vílchez, Eduardo Gutiérrez-Rivas, Joaquín Arenas, Miguel A. Martín, Cristina Domínguez-González
  • Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
    Alvaro N Monteiro, Peter Bouwman, Arne N Kousholt, Diana M Eccles, Gael A Millot, Jean-Yves Masson, Marjanka K Schmidt, Shyam K Sharan, Ralph Scully, Lisa Wiesmüller, Fergus Couch, Maaike P G Vreeswijk
  • Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
    Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
  • Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
    Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein
  • Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
    Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott
  • Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
    Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen
  • De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
    Laurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé, Nathalie Boddaert, Anna Kaminska, Marlène Rio, Stanislas Lyonnet, Arnold Munnich, Karine Poirier, Matias Simons, Claude Besmond
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
    Rowida Almomani, Johanna C Herkert, Anna Posafalvi, Jan G Post, Ludolf G Boven, Paul A van der Zwaag, Peter H G M Willems, Ingrid H van Veen-Hof, Judith M A Verhagen, Marja W Wessels, Peter G J Nikkels, Liesbeth T Wintjes, Maarten P van den Berg, Richard J Sinke, Richard J Rodenburg, Klary E Niezen-Koning, J Peter van Tintelen, Jan D H Jongbloed

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