Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Journal of Medical Genetics
DOI: 10.1136/jmg-2023-109728
Publications
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198 publications
Data usage
Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology
Ben Kinnersley, Amit Sud, Andrew Everall, et al.
Nature Genetics
DOI: 10.1038/s41588-024-01785-9
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T. Pagnamenta, Jing Yu, Susan Walker, et al.
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2024.04.018
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
Daniel Greene, Chantal Thys, Ian R. Berry, et al.
Nature Medicine
DOI: 10.1038/s41591-024-03085-5
Cerebral visual impairment: genetic diagnoses and phenotypic associations
Emogene Shaw, Ian Flitcroft, Richard Bowman, et al.
Journal of Medical Genetics
DOI: https://doi.org/10.1136/jmg-2023-109670
