Hayley Archer - Concepedia

Author

Hayley Archer

Also Known As

Angela Barnicoat, Gordon Lowther, H L Archer, H. Archer, H. L. Archer, H.L. Archer, Haden Archer, Hannah B. Archer, Hayley Archer, Hayley L Archer

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Wales Cardiff University Children's Hospital at Westmead University of Glasgow The University of Sydney

About

Hayley Archer is an author at University Hospital of Wales specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	1K
2	Social Sciences	2	2	595
3	Public Health	1	1	36
4	Genetic Medicine	1	1	36
5	Immunology	1	1	24

Hayley Archer

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation Linda S. Weaving, John Christodoulou, Sarah Williamson, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyGenetic DisorderGeneticsNeurodevelopment	2004	498
<i>CDKL5</i> mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Hayley Archer, Julie Evans, Stuart W. Edwards, Journal of Medical Genetics	2006	193
Early onset seizures and Rett-like features associated with mutations in CDKL5 Julie Evans, Hayley Archer, James Colley, European Journal of Human Genetics Early Onset SeizuresRett-like FeaturesGenetic DisorderGeneticsNeuroscience	2005	173
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, The American Journal of Human Genetics	2014	170
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M <i>MECP2</i> mutation, and the direction and degree of skewing of X-chromosome inactivation Hayley Archer, Julie Evans, Helen Leonard, Journal of Medical Genetics	2006	105
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice Basil Cardoza, Angus Clarke, Jodie Wilcox, Seizure Neurological DisorderRett SyndromeGenetic DisorderGenetic EpidemiologyNeurology	2011	59
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome Tony Charman, Tracey C S Neilson, Veronica Mash, European Journal of Human Genetics Genetic DisorderRett SyndromeGeneticsDimensional Phenotypic AnalysisMolecular Genetics	2005	57
Epilepsy caused by CDKL5 mutations Maija L. Castrén, Eija Gaily, Carola Tengström, European Journal of Paediatric Neurology Mendelian DisorderGenetic DisorderGeneticsCdkl5 MutationsNeurology	2010	53
<i>NTNG1</i> mutations are a rare cause of Rett syndrome Hayley Archer, Julie Evans, David Millar, American Journal of Medical Genetics Part A	2006	52

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