Emma Ashton - Concepedia

Author

Emma Ashton

Also Known As

Ashton, Emma, E Ashton, E. Ashton, Emma Ashton, Emma J Ashton, Emma J. Ashton, Emma Jane Ashton, Karen Ambrose, Samutheswari Balakrishnan

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

University College London Great Ormond Street Hospital for Children NHS Foundation Trust Great Ormond Street Hospital Guy's Hospital University of Zurich

About

Emma Ashton is an author at University College London specializing in medicine, renal pathology, and urology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	351
2	Engineering	3	3	131
3	Social Sciences	3	3	131
4	Molecular Genetics	2	2	69
5	Molecular Biology	1	1	42

Emma Ashton

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng, The Lancet Neurology	2009	635
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria Judy Savige, Helen Storey, E. Watson, European Journal of Human Genetics	2021	117
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 Sven Enerbäck, Daniel Nilsson, Noel Edwards, Journal of the American Society of Nephrology	2017	105
Clinical and molecular aspects of distal renal tubular acidosis in children Martine Besouw, Marc Bienias, Patrick R. Walsh, Pediatric Nephrology GlomerulonephritisUrologyRenal FunctionMedicineRenal Pathology	2017	101
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, Kidney International UrologyGenetic DisorderGeneticsRenal PathologyCausative Mutations	2018	97
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study Katherine Schon, Rita Horváth, Wei Wei, BMJ	2021	83
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies Matteo Bovolenta, Marcella Neri, Sergio Fini, BMC Genomics	2008	78
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis Ebun Omoyinmi, Ariane Standing, Annette Keylock, PLoS ONE	2017	76
Clinical and diagnostic features of Bartter and Gitelman syndromes Patrick R. Walsh, Yincent Tse, Emma Ashton, Clinical Kidney Journal	2017	71
Genetic testing in children with surfactant dysfunction Simona Turcu, Emma Ashton, Lucy Jenkins, Archives of Disease in Childhood	2013	67

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