Author

Hywel J. Williams

University College LondonORCID 0000-0001-7758-0312Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Louise Ocaka· 2 shared Polona Le Quesne StabejiD· 2 shared Alyssa Julia Jennifer PaganoniiD· 1 shared Andrey N. Gagunashvili· 1 shared Anna Maria CariboniiD· 1 shared Antonella LettieriiD· 1 shared Chiara Bacchelli· 1 shared Chris A. Odhams· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Louise Ocaka

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 19, 2022

Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status.

Hywel J. Williams, Chris A. Odhams, Genomics England

This paper evaluates the diagnostic utility of incorporating de novo variants and constrained coding regions in rare disease patients, showing improved diagnostic rates.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewedNov 3, 2021

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

Danielle Whittaker, Roberto Oleari, Louise Cheryl Gregory…·Mehul Dattani

This study identifies a recessive PRDM13 mutation causing congenital hypogonadotropic hypogonadism and cerebellar hypoplasia through mouse models and human expression analysis.

31 citationstop 4%

humanmouse

𝕏 PostBluesky

GenomicsJournal of Medical GeneticsPeer-reviewedJul 26, 2018

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma M. Clement, Wendy D. Jones…·Hywel J. Williams

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.

128 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky