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Helen V Firth

6PUBLICATIONS

205CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Genomics and transcriptomicsHuman information interaction and retrievalGene and molecular therapyNeurogenetics

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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

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

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