Table of contents

March 2023 - Volume 60 - 3

Functional genetics

Neurogenetics

Cancer genetics

Population genetics

Genotype-phenotype correlations

Screening

Chromosomal rearrangements

Phenotypes

Developmental defects

  • Original research:
    Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
    (5 July, 2022)
    Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing

Novel disease loci

Biochemical genetics