Helen V. Firth

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2K citations · Full text

Genetic Analysis, Functional Genomics, Genetics +7

A cellular census of human lungs identifies novel cell states in health and in asthma

Felipe A. Vieira Braga, Gozde Kar, Marijn Berg et al. · Nature Medicine · 2019 · 935 citations · Full text

Asthma, Human Cell, Human Lungs Identifies +12

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 785 citations · Full text