Jane A. Hurst - Concepedia

Author

Jane A. Hurst

Also Known As

A R Hanks, Ben Hutton, Clare McMillan, Daniel Hart, David Keeling, Francesca Faravelli, Hecht, Jacqueline T., Henry Houlden, Hurst, Jane, Iris Haug

455

Publications

18.8K

Citations

H-Index

151

Concepts

All Affiliations

University College London Great Ormond Street Hospital University of Oxford Churchill Hospital John Radcliffe Hospital

About

Jane A. Hurst is an author at University College London specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	47	11.8K
2	Public Health	5	5	237
3	Health Sciences	4	4	5.1K
4	Engineering	3	3	973
5	Natural Sciences	1	1	22

Jane A. Hurst

Publications

14.3K

Citations

H-Index

Page 1

	Year	Citations
Congenital leptin deficiency is associated with severe early-onset obesity in humans I. Sadaf Farooqi, Jonathan P. Whitehead, Maria A. Soos, Nature ObesityMetabolic SyndromeNutritionSevere Early-onset ObesityBody Composition	1997	2.9K
A forkhead-domain gene is mutated in a severe speech and language disorder Cecilia Lai, Simon E. Fisher, Jane A. Hurst, Nature Developmental BiologyLanguage DisorderSevere SpeechMedicineGenetics	2001	2.1K
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal, Nature Genetics ChromatinGenetic DisorderGeneticsCharge SyndromeMolecular Biology	2004	1.3K
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
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer, Nature Genetics Mendelian DisorderGenetic DisorderUnidentified Genomic DisordersGeneticsMedicine	2006	663
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
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification Andrew O.M. Wilkie, Zequn Tang, Navaratnam Elanko, Nature Genetics Regenerative MedicineSclerostinDevelopmental BiologyBone Morphogenic ProteinGenetics	2000	318
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek, The American Journal of Human Genetics Ocular DiseaseOphthalmologyGeneticsOcular PathologyMedicine	2005	309
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, PEDIATRICS	2010	285
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsFragile X SpectrumNeuroscience	2007	223

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