Eamonn Sheridan

Eamonn Sheridan

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Eamonn Sheridan

Eamonn Sheridan

Publications by authors named "Eamonn Sheridan"

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Use of zebrafish models to investigate rare human disease.

J Med Genet 2018 Oct 31;55(10):641-649. Epub 2018 Jul 31.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2018-105358DOI Listing
October 2018

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Neuropediatrics 2018 Apr 18;49(2):118-122. Epub 2017 Dec 18.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1608921DOI Listing
April 2018

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

J Med Genet 2016 08 14;53(8):533-5. Epub 2016 Mar 14.

School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975812PMC
August 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Am J Med Genet A 2014 Oct 16;164A(10):2649-55. Epub 2014 Jul 16.

Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, United Kingdom; School of Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36679DOI Listing
October 2014

Analysis of the Born in Bradford birth cohort--authors' reply.

Lancet 2014 Jan;383(9912):123

Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/S0140-6736(14)60020-9DOI Listing
January 2014

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study.

Lancet 2013 Oct 4;382(9901):1350-9. Epub 2013 Jul 4.

Bradford Institute for Health Research, Bradford Royal Infirmary, Bradford, UK; Department of Genetics, Wellcome Trust Brenner Building, St James's University Hospital, Leeds, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(13)61132-0DOI Listing
October 2013

Identification of autosomal recessive disease loci using out-bred nuclear families.

Hum Mutat 2012 Feb 28;33(2):338-42. Epub 2011 Nov 28.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21645DOI Listing
February 2012

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Hum Mutat 2011 Dec 19;32(12):1359-66. Epub 2011 Sep 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1002/humu.21597DOI Listing
December 2011

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Genomics 2011 Oct 19;98(4):302-9. Epub 2011 May 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1016/j.ygeno.2011.05.004DOI Listing
October 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

J Med Genet 2011 Feb 30;48(2):123-30. Epub 2010 Oct 30.

Division of Molecular & Translational Medicine, Leeds Institute for Molecular Medicine, University of Leeds, St James's University Hospital, Leeds, UK.

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http://www.tara.tcd.ie/bitstream/handle/2262/53909/PEER_stag
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.082081
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http://dx.doi.org/10.1136/jmg.2010.082081DOI Listing
February 2011

Genetic diagnosis of familial breast cancer using clonal sequencing.

Hum Mutat 2010 Apr;31(4):484-91

University of Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James's University Hospital, Beckett Street, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21216DOI Listing
April 2010

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Hum Mutat 2009 Dec;30(12):1642-9

Division of Molecular & Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.21105DOI Listing
December 2009

T (brachyury) gene duplication confers major susceptibility to familial chordoma.

Nat Genet 2009 Nov 4;41(11):1176-8. Epub 2009 Oct 4.

Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ng.454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901855PMC
November 2009

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Am J Hum Genet 2009 Nov 5;85(5):737-44. Epub 2009 Nov 5.

Section of Genetics (Leeds Institute of Molecular Medicine [LIMM]), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775839PMC
November 2009

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Ophthalmology 2009 Aug 5;116(8):1522-4. Epub 2009 Jun 5.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1016/j.ophtha.2009.02.032DOI Listing
August 2009

Replication of the recessive STBMS1 locus but with dominant inheritance.

Invest Ophthalmol Vis Sci 2009 Jul 14;50(7):3210-7. Epub 2009 Feb 14.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-1631DOI Listing
July 2009

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Hum Mutat 2009 Jun;30(6):960-7

Centre for Autozygosity Mapping and Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1002/humu.20974DOI Listing
June 2009

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

J Exp Med 2008 Oct 29;205(11):2465-72. Epub 2008 Sep 29.

Institut National de Santé et de Recherche Médicale, U768, 75015 Paris, France.

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http://dx.doi.org/10.1084/jem.20080789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571921PMC
October 2008

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Eur J Pediatr 2008 Mar 3;167(3):341-5. Epub 2007 May 3.

Yorkshire Regional Genetics Service, St James University Hospital, Ashley Wing, Beckett Street, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1007/s00431-007-0468-1DOI Listing
March 2008

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hum Mutat 2007 May;28(5):424-30

Leeds Institute of Molecular Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.20457DOI Listing
May 2007

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

Am J Med Genet A 2007 Mar;143A(6):608-9

Department of Ophthalmology, Leeds General Infirmary, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31568DOI Listing
March 2007

ABCA12 is the major harlequin ichthyosis gene.

J Invest Dermatol 2006 Nov 10;126(11):2408-13. Epub 2006 Aug 10.

Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

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http://dx.doi.org/10.1038/sj.jid.5700455DOI Listing
November 2006

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

Am J Hum Genet 2004 May 7;74(5):954-64. Epub 2004 Apr 7.

Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1086/420796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181988PMC
May 2004

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome.

BJOG 2002 Sep;109(9):1076-8

University Department of Obstetrics and Gynaecology, St James's University Hospital, Leeds, UK.

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September 2002

A global disorder of imprinting in the human female germ line.

Nature 2002 Apr;416(6880):539-42

University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.

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http://www.nature.com/articles/416539a
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http://dx.doi.org/10.1038/416539aDOI Listing
April 2002