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Sarah Ennis

Researcher Next ID · RN-022737

Researcher · Medicine

University Hospitals Birmingham NHS Foundation Trust

Birmingham, Colombia

Not currently recruitingFunding unknown
Works count
275
Citation count
10,638
H-index
52
i10-index
159

Research interests

Medicine
Biochemistry, Genetics and Molecular Biology
Retinal Diseases and Treatments
Inflammatory Bowel Disease
Genetic Associations and Epidemiology
Genomics and Rare Diseases
Glaucoma and retinal disorders

Publications

  • A foundation model for generalizable disease detection from retinal images

    Nature · 2023 · https://doi.org/10.1038/s41586-023-06555-x

  • A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases

    npj Digital Medicine · 2020 · 10.1038/s41746-020-0229-3

  • Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort

    Ophthalmology · 2019 · 10.1016/j.ophtha.2019.08.015

  • Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort

    Ophthalmology · 2019 · 10.1016/j.ophtha.2019.08.015

  • Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort

    Ophthalmology · 2019 · 10.1016/j.ophtha.2019.08.015

  • Progression of Geographic Atrophy in Age-related Macular Degeneration

    Ophthalmology · 2018 · 10.1016/j.ophtha.2018.05.028

  • Classification of Paediatric Inflammatory Bowel Disease using Machine Learning

    Scientific Reports · 2017 · 10.1038/s41598-017-02606-2

  • Classification of Paediatric Inflammatory Bowel Disease using Machine Learning

    Scientific Reports · 2017 · 10.1038/s41598-017-02606-2

  • Classification of Paediatric Inflammatory Bowel Disease using Machine Learning

    Scientific Reports · 2017 · 10.1038/s41598-017-02606-2

  • Exome sequencing explained: a practical guide to its clinical application

    Briefings in Functional Genomics · 2015 · 10.1093/bfgp/elv054

  • Exome sequencing explained: a practical guide to its clinical application

    Briefings in Functional Genomics · 2015 · 10.1093/bfgp/elv054

  • Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

    Nephrology Dialysis Transplantation · 2015 · 10.1093/ndt/gfv325

  • Exome sequencing explained: a practical guide to its clinical application

    Briefings in Functional Genomics · 2015 · 10.1093/bfgp/elv054

  • Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

    Nature Genetics · 2014 · 10.1038/ng.3087

  • Exome sequence read depth methods for identifying copy number changes

    Briefings in Bioinformatics · 2014 · 10.1093/bib/bbu027

  • Exome sequence read depth methods for identifying copy number changes

    Briefings in Bioinformatics · 2014 · 10.1093/bib/bbu027

  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

    Nature Communications · 2014 · 10.1038/ncomms5883

  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

    Nature Communications · 2014 · 10.1038/ncomms5883

  • Exome sequence read depth methods for identifying copy number changes

    Briefings in Bioinformatics · 2014 · 10.1093/bib/bbu027

  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

    Nature Communications · 2014 · 10.1038/ncomms5883

  • Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

    Diabetologia · 2013 · 10.1007/s00125-013-2832-1

  • Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

    Diabetologia · 2013 · 10.1007/s00125-013-2832-1

  • Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

    PLoS ONE · 2013 · 10.1371/journal.pone.0083244

  • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

    Nature Genetics · 2013 · 10.1038/ng.2506

  • Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

    Diabetologia · 2013 · 10.1007/s00125-013-2832-1

  • Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

    PLoS ONE · 2013 · 10.1371/journal.pone.0083244

  • Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

    PLoS ONE · 2013 · 10.1371/journal.pone.0083244

  • Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

    Gut · 2012 · 10.1136/gutjnl-2011-301833

  • Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

    Gut · 2012 · 10.1136/gutjnl-2011-301833

  • Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

    Gut · 2012 · 10.1136/gutjnl-2011-301833

  • Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

    American Journal of Epidemiology · 2011 · 10.1093/aje/kwr015

  • Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studies

    Human Mutation · 2011 · 10.1002/humu.21577

  • Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studies

    Human Mutation · 2011 · 10.1002/humu.21577

  • Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

    American Journal of Epidemiology · 2011 · 10.1093/aje/kwr015

  • Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studies

    Human Mutation · 2011 · 10.1002/humu.21577

  • Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

    American Journal of Epidemiology · 2011 · 10.1093/aje/kwr015

  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

    Nature Genetics · 2010 · 10.1038/ng.661

  • Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study

    The Lancet · 2008 · 10.1016/s0140-6736(08)61348-3

  • Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study

    The Lancet · 2008 · 10.1016/s0140-6736(08)61348-3

  • Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study

    The Lancet · 2008 · 10.1016/s0140-6736(08)61348-3

  • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

    European Journal of Human Genetics · 2005 · 10.1038/sj.ejhg.5201510

  • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

    European Journal of Human Genetics · 2005 · 10.1038/sj.ejhg.5201510

  • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

    European Journal of Human Genetics · 2005 · 10.1038/sj.ejhg.5201510

  • Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

    European Journal of Human Genetics · 2004 · 10.1038/sj.ejhg.5201311

  • Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

    European Journal of Human Genetics · 2004 · 10.1038/sj.ejhg.5201311

  • Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

    European Journal of Human Genetics · 2004 · 10.1038/sj.ejhg.5201311

  • A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

    American Journal of Medical Genetics Part A · 2003 · 10.1002/ajmg.a.20553

  • A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

    American Journal of Medical Genetics Part A · 2003 · 10.1002/ajmg.a.20553

  • A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

    American Journal of Medical Genetics Part A · 2003 · 10.1002/ajmg.a.20553

  • The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis

    Proceedings of the National Academy of Sciences · 2002 · 10.1073/pnas.042680999

  • The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis

    Proceedings of the National Academy of Sciences · 2002 · 10.1073/pnas.042680999

  • The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis

    Proceedings of the National Academy of Sciences · 2002 · 10.1073/pnas.042680999

  • The optimal measure of allelic association

    Proceedings of the National Academy of Sciences · 2001 · 10.1073/pnas.091062198

  • The optimal measure of allelic association

    Proceedings of the National Academy of Sciences · 2001 · 10.1073/pnas.091062198

  • The optimal measure of allelic association

    Proceedings of the National Academy of Sciences · 2001 · 10.1073/pnas.091062198

  • FRAXA and FRAXE: the results of a five year survey

    Journal of Medical Genetics · 2000 · 10.1136/jmg.37.6.415

  • Reproductive and menstrual history of females with fragile X expansions

    European Journal of Human Genetics · 2000 · 10.1038/sj.ejhg.5200451

  • FRAXA and FRAXE: the results of a five year survey

    Journal of Medical Genetics · 2000 · 10.1136/jmg.37.6.415

  • Reproductive and menstrual history of females with fragile X expansions

    European Journal of Human Genetics · 2000 · 10.1038/sj.ejhg.5200451

  • FRAXA and FRAXE: the results of a five year survey

    Journal of Medical Genetics · 2000 · 10.1136/jmg.37.6.415

  • Reproductive and menstrual history of females with fragile X expansions

    European Journal of Human Genetics · 2000 · 10.1038/sj.ejhg.5200451

Current projects

    No projects listed.