Table of contents

January 2023 - Volume 60 - 1

Ethics and policy

Biochemical genetics

Clinical guidelines

Cancer genetics

Novel disease loci

  • Original research:
    Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
    (5 November, 2021)
    Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva M C Schwaibold, Christoph Schmidt, Luisa Averdunk, Rebecca Buchert, Tilman Heinrich, Natalia Prodan, Joohyun Park, Martin Kehrer, Marc Sturm, Olga Kelemen, Silke Hartmann, Denise Horn, Dirk Emmerich, Nina Hirt, Armin Neumann, Glen Kristiansen, Ulrich Gembruch, Susanne Haen, Reiner Siebert, Sabine Hentze, Markus Hoopmann, Stephan Ossowski, Stephan Waldmüller, Stefanie Beck-Wödl, Dieter Gläser, Ismail Tekesin, Felix Distelmaier, Olaf Riess, Karl-Oliver Kagan, Andreas Dufke, Tobias B Haack

Developmental defects

Genotype-phenotype correlations

Phenotypes

Cognitive and behavioural genetics

Copy-number variation