Author
Nottingham University Hospitals NHS TrustORCID 0000-0002-8711-8671Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
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.
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely
The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.
Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald…·Neeti Ghali
The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.