Author
Sheffield Children's NHS Foundation TrustORCID 0000-0002-7054-4711Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
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.
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk…·Tahsin Stefan Barakat
The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.
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.
Caroline Fiona Wright, Patrick H. Campbell, Ruth Y. Eberhardt…·Helen V. Firth
The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.
Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre…·on behalf of the Deciphering Developmental Disorders Study
The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.