Table of contents

April 2021 - Volume 58 - 4

Screening

Cancer genetics

  • Original research: Sporadic vestibular schwannoma: a molecular testing summary (23 June, 2020)
    Katherine V Sadler, Naomi L Bowers, Claire Hartley, Philip T Smith, Simon Tobi, Andrew J Wallace, Andrew King, Simon K W Lloyd, Scott Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon Freeman, Emma Stapleton, Amy Taylor, Adam Shaw, Dorothy Halliday, Miriam Jane Smith, D Gareth Evans
  • Loss-of-function variants in POT1 predispose to uveal melanoma
    (9 September, 2020)
    Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

Neurogenetics

Novel disease loci

Developmental defects

Genotype-phenotype correlations

Diagnostics