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Eamonn G. Sheridan

Observed names: E Sheridan, E. SHERIDAN, E. Sheridan, EAMONN SHERIDAN, Eamonn G Sheridan, Eamonn Sheridan, Eamonn G. Sheridan
Institution: University of Leeds
Observed institutions: National Health Service, University of Leeds, University of Bradford, St George's, University of London, University of Cambridge, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Bradford Royal Infirmary, St James's University Hospital, Cambridge University Hospitals NHS Foundation Trust, Wellcome Sanger Institute, Copenhagen University Hospital, Weston Park Cancer Centre, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Birmingham Children's Hospital, Max Planck Institute of Biophysics, Health Innovation Manchester, Addenbrooke's Hospital, Bradford Teaching Hospitals NHS Foundation Trust, Bradford Institute for Health Research, University of Birmingham, Wellcome Trust
ORCID: 0000-0002-7237-6280
Observed ORCID: 0000-0002-7237-6280
OpenAlex ID: A5045064606
Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020 · Joanna Kaplanis, Kaitlin E. Samocha, et al. · Nature · 609
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
2009 · Detlef Bockenhauer, Sally Feather, et al. · New England Journal of Medicine · 594
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
2013 · Clare V Logan, György Szabadkai, et al. · Nature Genetics · 369
T (brachyury) gene duplication confers major susceptibility to familial chordoma
2009 · Xiaohong R Yang, David Ng, et al. · Nature Genetics · 305
Health and population effects of rare gene knockouts in adult humans with related parents
2016 · Vagheesh M. Narasimhan, Karen A. Hunt, et al. · Science · 285
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Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study
2013 · Eamonn Sheridan, John Wright, et al. · The Lancet · 255
Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk
2010 · Amy L Sherborne, Fay J Hosking, et al. · Nature Genetics · 255
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
2011 · David A. Parry, Clare V. Logan, et al. · The American Journal of Human Genetics · 249
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
2012 · Jennifer R Panizzi, Anita Becker-Heck, et al. · Nature Genetics · 248
A global disorder of imprinting in the human female germ line
2002 · Hannah Judson, Bruce E. Hayward, et al. · Nature · 220
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
2012 · Tony Roscioli, Erik-Jan Kamsteeg, et al. · Nature Genetics · 211
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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
2010 · Peter Green, Matthew Wiseman, et al. · The American Journal of Human Genetics · 199
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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
2013 · Maimoona A. Zariwala, Heon Yung Gee, et al. · The American Journal of Human Genetics · 197
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Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
2004 · Michel De Vos, Bruce E. Hayward, et al. · The American Journal of Human Genetics · 196
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
2014 · Rim Hjeij, Alexandros Onoufriadis, et al. · The American Journal of Human Genetics · 173
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Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
2009 · Mohammad R. Abdollahi, Ewan Morrison, et al. · The American Journal of Human Genetics · 170
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
2008 · Sophie Péron, Ayse Metin, et al. · The Journal of Experimental Medicine · 163
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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
2011 · Mehmet Bakircioglu, Ofélia P. Carvalho, et al. · The American Journal of Human Genetics · 161
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Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
2013 · Gabriele Migliorini, Bettina Fiege, et al. · Blood · 160
Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
2003 · C.F. Taylor, R.S. Charlton, et al. · Human Mutation · 153
Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole
2009 · Bruce E. Hayward, Michel De Vos, et al. · Human Mutation · 152
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
2014 · Ghayda M Mirzaa, David A Parry, et al. · Nature Genetics · 146
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
2013 · Ryan P. Liegel, Mark T. Handley, et al. · The American Journal of Human Genetics · 138
Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood
2009 · Rashmi B. Prasad, Fay J. Hosking, et al. · Blood · 134
Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 129
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Works count: 158
Citation count: 10,100
H-index: 56
I10-index: 106
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