Author
Children's Health Ireland at CrumlinORCID 0000-0002-1077-7417Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen
The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.
James Fasham, Rucha Pandit, Adam T. Higgins…·Abhijit Dixit
The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.
Morad Ansari, Mihail R. Halachev, David Parry…·Alison M. Meynert
This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.
Harriet Copeland, Karen Jaqueline Low, Sarah Wynn…·Caroline Fiona Wright
The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha…·Therese Bradley
The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.