early diagnosis

  • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors
    Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou
  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
    Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Steinfeld, Matias Wagner, Ahmet Okay Caglayan, Hakan Gumus, Margit Burmeister, Ertan Mayatepek, Diego Martinelli, Parag Mohan Tamhankar, Vasundhara Tamhankar, Pascal Joset, Katharina Steindl, Anita Rauch, Penelope E Bonnen, Tawfiq Froukh, Samuel Groeschel, Ingeborg Krägeloh-Mann, Tobias B Haack, Felix Distelmaier
  • Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
    Zixin Qin, Cheong Nang Kuok, Hui Dong, Luhan Jiang, Li Zhang, Maoni Guo, Hio Kuan Leong, Lei Wang, Grace Meng, San Ming Wang
  • Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
    Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George J Burghel, Laura Dutton, Siddharth Banka, Tracy A Briggs, Jill Clayton-Smith, Sofia Douzgou, Elizabeth A Jones, Helen M Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E Chandler, Helen M Stuart, Emma MM Burkitt-Wright, William G Newman, Iain A Bruce, Graeme C Black, David Gokhale
  • Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
    Mikey B Lebrett, Emma J Crosbie, Miriam J Smith, Emma R Woodward, D Gareth Evans, Philip A J Crosbie