Author
European Bioinformatics InstituteORCID 0000-0003-4567-2479Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Simone Webb, Antony Rose, Chuan Xu…·Muzlifah A. Haniffa
Human Developmental Cell Atlas integrates ~4.6 million cells/nuclei from 4-22 post-conception weeks into 454 refined cell types and maps 114 spatial niches across 6PCW whole-embryo sections.
Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson…·Tim James Cole
The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.
Jeremy A. Arbesfeld, Estelle Y. Da, James Stevenson…·Alex Handler Wagner
The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.
Karen Jaqueline Low, Amy Watford, Peter Sinclair Blair…·Jenny C Ingram
This study aims to collect clinical data on children with genetic syndromes to identify growth patterns and developmental profiles, guiding clinical care and diagnosis.
Angharad M. Roberts, Marina T. DiStefano, Erin Rooney Riggs…·James S. Ware
This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.
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.