Helen V. Firth - Concepedia

Author

Helen V. Firth

Also Known As

Bruce Furie, Carl Anderson, Carli M. Tops, Caroline F Wright, Caroline F. Wright, Caroline Gannon, David R. FitzPatrick, Erica H Gerkes, Eugene Bragin, Firth, H

541

Publications

23.7K

Citations

H-Index

174

Concepts

All Affiliations

Wellcome Sanger Institute Addenbrooke's Hospital Cambridge University Hospitals NHS Foundation Trust University of Cambridge Institute of Genetics and Cancer

About

Helen V. Firth is an author at Wellcome Sanger Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	38	56	10.3K
2	Engineering	7	7	1.1K
3	Health Sciences	2	2	86
4	Education	1	1	53
5	Law	1	1	16

Helen V. Firth

114

Publications

16.5K

Citations

H-Index

Page 1

	Year	Citations
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Helen V. Firth, Shola M. Richards, A. Paul Bevan, The American Journal of Human Genetics Genetic AnalysisFunctional GenomicsGeneticsComputational GenomicsChromosomal Imbalance	2009	2K
A cellular census of human lungs identifies novel cell states in health and in asthma Felipe A. Vieira Braga, Gozde Kar, Marijn Berg, Nature Medicine AsthmaHuman CellHuman Lungs IdentifiesCell StatesAllergy	2019	935
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Nucleic Acids Research EngineeringGeneticsUpdated Hpo DatabaseGenetic EpidemiologyMolecular Biology	2013	834
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford, Andrew J. Sharp, Carl Baker, New England Journal of Medicine	2008	803
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, The Lancet	2014	785
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B Sandra Hanks, Kim Coleman, Sarah Reid, Nature Genetics Biallelic MutationsSomatic VariantGenetic DisorderGeneticsPathology	2004	604
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Deborah Mackay, Jonathan L A Callaway, Sophie M Marks, Nature Genetics Developmental BiologyGenetic DisorderMultiple Imprinted LociGeneticsDiabetes	2008	524
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Human Mutation GeneticsGenetic EpidemiologyDatabasesGenomicsBioinformatics Database	2015	468
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation Helen V. Firth, Patricia A. Boyd, R H Lindenbaum, The Lancet 56-66 DaysPediatricsPathologySevere Limb AbnormalitiesPrenatal Diagnosis	1991	381

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