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Jane A. Hurst | Researchclopedia

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Jane A. Hurst

Southampton Hospital

455

Works

18,955

Citations

60

h-index

119

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

National Health Service1995–2009

Hôpital Necker-Enfants Malades2017–2017

Leeds General Infirmary2020–2020

Brookhaven National Laboratory1963–1963

Barts Health NHS Trust2018–2018

Top Works

Congenital leptin deficiency is associated with severe early-onset obesity in humans

Elizabeth Montague,I. Sadaf Farooqi,et al.

19972,928 citations

Prenatal Screening and Diagnostics

Connective tissue disorders research

A forkhead-domain gene is mutated in a severe speech and language disorder

Cecilia Lai,Simon E. Fisher,et al.

20012,064 citations

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers,Conny M.A. van Ravenswaaij,et al.

20041,270 citations

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

Sebastian Köhler,Sandra C. Doelken,et al.

2013837 citations

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp,S.K. Hansen,et al.

2006664 citations

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss,Gavin Arno,et al.

2016478 citations

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan,Candace T. Myers,et al.

2017451 citations

An extended Family with a Dominantly Inherited Speech Disorder

Jane A. Hurst,M Baraitser,et al.

1990349 citations

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Andrew O.M. Wilkie,Zequn Tang,et al.

2000318 citations