Helen V Firth
6PUBLICATIONS
205CO-AUTHORS
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Publications (6)
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|Feb 12, 2026
Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.Nadja Louw, Prince Makay, Phelelani T Mpangase
|Nov 07, 2024
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).T Michael Yates, Morad Ansari, Louise Thompson
|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.Michael A Gargano, Nicolas Matentzoglu, Ben Coleman
|Feb 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Julia Foreman, Simon Brent, Daniel Perrett
|Dec 31, 2019
Genomic variant sharing: a position statement.Caroline F Wright, James S Ware, Anneke M Lucassen
|Nov 10, 2018
Quantifying the contribution of recessive coding variation to developmental disorders.Hilary C Martin, Wendy D Jones, Rebecca McIntyre
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Frequent Collaborators
2 joint publications
Matthew E Hurles
2 joint publications
James S Ware
2 joint publications
Caroline F Wright
1 joint publications
Zané Lombard
1 joint publications
Wendy D Jones
1 joint publications
Rebecca McIntyre
1 joint publications
James D Stephenson
1 joint publications
Carla P Jones
1 joint publications
Juliet Handsaker
1 joint publications
Michaela Bruntraeger
