Edward Blair - Concepedia

Author

Edward Blair

Also Known As

Angela Brady, Anna de Burca, Blair, Edward, E Blair, E. Blair, EDWARD BLAIR, Eamonn Sheridan, Edward Blair, Edward M Blair, Edward M. Blair

123

Publications

10.5K

Citations

H-Index

136

Concepts

All Affiliations

Churchill Hospital University of Oxford Oxford University Hospitals NHS Trust Centre for Human Genetics John Radcliffe Hospital

About

Edward Blair is an author at Churchill Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	27	31	3.9K
2	Engineering	2	2	287
3	Health Sciences	2	2	462
4	Business	1	1	77
5	Management	1	1	77

Edward Blair

Publications

8.3K

Citations

H-Index

Page 1

	Year	Citations
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Roddy Walsh, Kate Thomson, James S. Ware, Genetics in Medicine	2016	744
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
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis Edward Blair Human Molecular Genetics	2001	526
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy Jenifer Crilley, Ernest Boehm, Edward Blair, Journal of the American College of Cardiology Metabolic SyndromeCardiomyopathyHeart FailureCardiac MuscleGenetics	2003	428
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Jenny C. Taylor, Hilary C. Martin, Stefano Lise, Nature Genetics SequencingPsychiatryClinical GenomeGeneticsMedicine	2015	378
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies Derek H.K. Lim, Sarah Bowdin, Louise Tee, Human Reproduction	2008	274
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis H. Christian Martin, Grace Kim, A. T. Pagnamenta, Human Molecular Genetics EngineeringGeneticsDisease Gene IdentificationGenomicsPotassium Channel	2014	255
The genetic basis of DOORS syndrome: an exome-sequencing study Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, The Lancet Neurology	2013	227

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