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E. Sheridan · SciRah

Researcher profile · Semantic Scholar

E. Sheridan

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E. Sheridan — researcher profile on SciRah

h-index: 48
Works: 135
Citations: 8,384

Most-cited papers

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
D. Bockenhauer, S. Feather, H. Stanescu, S. Bandulik +26 more
2009New England Journal of Medicine551 citations Open access
Semantic Scholar
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
W. Leen, J. Klepper, M. Verbeek, M. Leferink +49 more
2010Brain : a journal of neurology421 citations Open access
Semantic Scholar
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Clare V. Logan, G. Szabadkai, J. Sharpe, David A. Parry +32 more
2013Nature Genetics382 citations Open access
Semantic Scholar
T (Brachyury) gene duplication confers major susceptibility to familial chordoma
Xiao-Hong R. Yang, David Ng, D. Alcorta, N. Liebsch +5 more
2009Nature Genetics297 citations Open access
Semantic Scholar
Health and population effects of rare gene knockouts in adult humans with related parents
V. Narasimhan, K. Hunt, D. Mason, Christopher L. Baker +32 more
2015Science284 citations Open access
Semantic Scholar
Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk
A. Sherborne, Fay J. Hosking, R. Prasad, Rajiv Kumar +34 more
2010Nature Genetics267 citations Open access
Semantic Scholar
Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study.
E. Sheridan, John Wright, N. Small, P. Corry +7 more
2013The Lancet262 citations
Semantic Scholar
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
J. Panizzi, A. Becker-Heck, Victoria H. Castleman, D. A. Al-Mutairi +23 more
2012Nature Genetics250 citations Open access
Semantic Scholar
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
David A. Parry, Clare V. Logan, B. Hayward, M. Shires +15 more
2011American Journal of Human Genetics232 citations Open access
Semantic Scholar
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
P. Green, M. Wiseman, Y. Crow, H. Houlden +7 more
2010American Journal of Human Genetics187 citations Open access
Semantic Scholar
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
G. Migliorini, Bettina Fiege, Fay J. Hosking, Yussanne P. Ma +24 more
2013Blood164 citations Open access
Semantic Scholar
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
M. R. Abdollahi, E. Morrison, Tamara M. Sirey, Z. Molnár +13 more
2009American Journal of Human Genetics160 citations Open access
Semantic Scholar
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
R. Hjeij, A. Onoufriadis, C. Watson, Christopher E. Slagle +31 more
2014American Journal of Human Genetics158 citations Open access
Semantic Scholar
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
G. Mirzaa, David A. Parry, A. Fry, K. A. Giamanco +29 more
2014Nature Genetics142 citations Open access
Semantic Scholar
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
R. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown +19 more
2013American Journal of Human Genetics134 citations Open access
Semantic Scholar
Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood.
R. Prasad, Fay J. Hosking, J. Vijayakrishnan, E. Papaemmanuil +15 more
2010Blood134 citations
Semantic Scholar
Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole
Bruce E. Hayward, M. De Vos, Nargese J. Talati, M. R. Abdollahi +11 more
2009Human Mutation115 citations
Semantic Scholar
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Clare V. Logan, Barbara Lucke, C. Pottinger, Z. Abdelhamed +20 more
2011Nature Genetics113 citations
Semantic Scholar
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Sahra Bodo, C. Colas, O. Buhard, A. Collura +46 more
2015Gastroenterology94 citations Open access
Semantic Scholar
Genetic diagnosis of familial breast cancer using clonal sequencing
J. Morgan, I. Carr, E. Sheridan, C. Chu +7 more
2010Human Mutation90 citations Open access
Semantic Scholar
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
P. Makrythanasis, M. Kato, M. Zaki, H. Saitsu +17 more
2016American Journal of Human Genetics88 citations Open access
Semantic Scholar
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
J. Poulter, M. Al-Araimi, I. Conte, M. V. van Genderen +25 more
2013American Journal of Human Genetics88 citations Open access
Semantic Scholar
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, M. Mensah, J. Pantel, D. Aguilar +90 more
2018Genetics in Medicine83 citations Open access
Semantic Scholar
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
K. Khan, Adam K. Rudkin, David A. Parry, K. Burdon +25 more
2011American Journal of Human Genetics83 citations Open access
Semantic Scholar
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
A. Shoemark, E. Moya, R. Hirst, Mitali P. Patel +33 more
2017Thorax81 citations Open access
Semantic Scholar
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
K. Khan, Clare V. Logan, M. Mckibbin, E. Sheridan +17 more
2011Human Molecular Genetics81 citations Open access
Semantic Scholar
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
Dorothy A. Thompson, S. Feather, H. Stanescu, B. Freudenthal +11 more
2011Journal of Physiology81 citations Open access
Semantic Scholar
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
C. Diggle, S. Sukoff Rizzo, M. Popiolek, R. Hinttala +38 more
2016American Journal of Human Genetics76 citations Open access
Semantic Scholar
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1
J. Vijayakrishnan, R. Kumar, M. Henrion, A. Moorman +25 more
2016Leukemia74 citations Open access
Semantic Scholar
Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma.
Jarmila Stremenova Spegarova, Dylan Lawless, S. Mohamad, K. Engelhardt +23 more
2020Blood73 citations Open access
Semantic Scholar
Mutations in the transcriptional repressor REST predispose to Wilms tumor
S. Mahamdallie, S. Hanks, Kristen L. Karlin, Anna Zachariou +21 more
2015Nature Genetics72 citations
Semantic Scholar
Use of zebrafish models to investigate rare human disease
K. Adamson, E. Sheridan, A. Grierson
2018Journal of Medical Genetics65 citations Open access
Semantic Scholar
Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects
S. Bonnefoy, C. Watson, K. Kernohan, M. Lemos +20 more
2018bioRxiv65 citations Open access
Semantic Scholar
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
S. Cuvertino, V. Hartill, A. Colyer, Terence Garner +30 more
2020Genetics in Medicine63 citations Open access
Semantic Scholar
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
C. Diggle, D. J. Moore, G. Mali, P. zur Lage +20 more
2014PLoS Genetics63 citations Open access
Semantic Scholar
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
T. Nguyen, Y. Murakami, E. Sheridan, Sophie Ehresmann +28 more
2017American Journal of Human Genetics60 citations Open access
Semantic Scholar
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
M. El-Asrag, P. Sergouniotis, M. Mckibbin, V. Plagnol +14 more
2015American Journal of Human Genetics50 citations Open access
Semantic Scholar
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
D. Ingham, Christine P. Diggle, Ian R. Berry, Claire A. P. Bristow +6 more
2013Human Mutation49 citations Open access
Semantic Scholar
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
R. Hollstein, David A. Parry, Lisa Nalbach, Clare V. Logan +13 more
2015Journal of Medical Genetics48 citations Open access
Semantic Scholar
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
Guoliang Chai, A. Webb, Chen Li, D. Antaki +33 more
2020Neuron47 citations Open access
Semantic Scholar
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
C. Watson, Laura A. Crinnion, J. Morgan, Sally M. Harrison +9 more
2013Human Mutation43 citations Open access
Semantic Scholar
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Stella Zhang, Saghira Malik Sharif, Ya-Chun Chen, E. Valente +4 more
2016Journal of Medical Genetics41 citations Open access
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
David A. Parry, Clare V. Logan, A. Stegmann, Z. Abdelhamed +10 more
2013American Journal of Human Genetics39 citations Open access
Semantic Scholar
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
C. Watson, Laura A. Crinnion, S. Hewitt, J. Bates +5 more
2019Laboratory Investigation38 citations Open access
Semantic Scholar
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
M. Al-Araimi, B. Pal, J. Poulter, M. V. van Genderen +9 more
2013Molecular Vision37 citations
Semantic Scholar
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A
J. Vijayakrishnan, M. Henrion, A. Moorman, Bettina Fiege +23 more
2015Scientific Reports35 citations Open access
Semantic Scholar
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
V. Hartill, G. van de Hoek, Mitali P. Patel, Rosie B Little +24 more
2017Human Molecular Genetics33 citations Open access
Semantic Scholar
Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
C. Watson, Laura A. Crinnion, A. Tzika, A. Mills +9 more
2014American Journal of Medical Genetics. Part A32 citations Open access
Semantic Scholar
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
J. Vijayakrishnan, J. Studd, P. Broderick, B. Kinnersley +92 more
2018Nature Communications31 citations Open access
Semantic Scholar

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