Jane A. Hurst
Southampton Hospital(US)Great Ormond Street Hospital for Children NHS Foundation Trust(GB)Southampton General Hospital(GB)Wellcome Sanger Institute(GB)University Hospital Southampton NHS Foundation Trust(GB)University of Southampton(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Connective tissue disorders research
Most-Cited Works
- → Congenital leptin deficiency is associated with severe early-onset obesity in humans(1997)2,927 cited
- → A forkhead-domain gene is mutated in a severe speech and language disorder(2001)2,064 cited
- → Mutations in a new member of the chromodomain gene family cause CHARGE syndrome(2004)1,269 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome(2006)664 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited