Author
Northwick Park HospitalORCID 0000-0003-1390-0334Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson
The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.
Daniel Daniš, Michael J Bamshad, Yasemin Bridges…·Peter N. Robinson
The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.
Pilar Cacheiro, Samantha Lawson, Ignatia B. Van den Veyver…·Damian P. Smedley
This paper curates human essential genes based on lethality in Mendelian disorders and explores their relationships with constraint metrics and viability data.
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.