Publications by authors named "H V Firth"

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Complex de novo structural variants are an underestimated cause of rare disorders.
Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, O Isaac Garcia-Salinas, Helen Firth

Nat Commun· November 2025

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The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
Karen J Low, Julia Foreman, Rachel J Hobson, Hannah Kwuo, Elena Martinez-Cayuelas, Helen V Firth

Eur J Hum Genet· October 2025

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Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.
Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah J Lindsay, Qin Qin Huang, Helen V Firth

Genome Med· October 2025

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Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Morad Ansari, Mihail Halachev, David Parry, Jose L Campos, Elston N D'Souza, Helen V Firth

Hum Mutat· July 2025

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Mapping MAVE data for use in human genomics applications.
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, Kori Kuzma, Anika Paul, Helen V Firth

Genome Biol· June 2025

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